Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS gene AARS Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 29, MIM# 616339 Microcephaly;HP:0000252 28493438;25817015 False 3 100;0;0 1.295 True ENSG00000090861 ENSG00000090861 HGNC:20 ADARB1 gene ADARB1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862;Intellectual disability;microcephaly;seizures Microcephaly;HP:0000252 32220291;32719099 False 3 100;0;0 1.295 True ENSG00000197381 ENSG00000197381 HGNC:226 AFF3 gene AFF3 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297 Microcephaly;HP:0000252 31388108;33961779 False 3 100;0;0 1.295 True ENSG00000144218 ENSG00000144218 HGNC:6473 AGMO gene AGMO Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, AGMO-related Microcephaly;HP:0000252 31555905;27000257 False 3 100;0;0 1.295 True ENSG00000187546 ENSG00000187546 HGNC:33784 ANKLE2 gene ANKLE2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 16, primary, autosomal recessive, MIM# 616681 Microcephaly;HP:0000252 25259927;30214071;31735666 False 3 100;0;0 1.295 True ENSG00000176915 ENSG00000176915 HGNC:29101 AP3B2 gene AP3B2 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 48, MIM# 617276 Microcephaly;HP:0000252 27431290;27866705;32705489 False 3 100;0;0 1.295 True ENSG00000103723 ENSG00000103723 HGNC:567 AP4B1 gene AP4B1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, MIM# 614066 Microcephaly;HP:0000252 21620353;22290197;24700674;24781758 False 3 100;0;0 1.295 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, MIM# 613744 Microcephaly;HP:0000252 20972249;21620353;21937992 False 3 100;0;0 1.295 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive (MIM#612936) Microcephaly;HP:0000252 28464862;24700674 False 3 100;0;0 1.295 True ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive (MIM#614067) Microcephaly;HP:0000252 21620353;25552650;27444738 False 3 0;100;0 1.295 True ENSG00000100478 ENSG00000100478 HGNC:575 ARCN1 gene ARCN1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Microcephaly;HP:0000252 27476655 False 3 0;100;0 1.295 True ENSG00000095139 ENSG00000095139 HGNC:649 ARFGEF2 gene ARFGEF2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly (MIM#608097) Microcephaly;HP:0000252 25160555;26126837;23812912 False 3 100;0;0 1.295 True ENSG00000124198 ENSG00000124198 HGNC:15853 ARPC4 gene ARPC4 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, ARPC4-related MONDO#0700092 Microcephaly;HP:0000252 35047857 False 3 100;0;0 1.295 True ENSG00000241553 ENSG00000241553 HGNC:707 ASPM gene ASPM Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive, MIM#608716 Microcephaly;HP:0000252 29243349;19028728 False 3 100;0;0 1.295 True ENSG00000066279 ENSG00000066279 HGNC:19048 ATP1A2 gene ATP1A2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602 Microcephaly;HP:0000252 30690204;31608932 False 3 100;0;0 1.295 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP6V0C gene ATP6V0C Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Microcephaly;HP:0000252 33190975;33090716;36074901 False 3 100;0;0 1.295 True ENSG00000185883 ENSG00000185883 HGNC:855 ATP9A gene ATP9A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Microcephaly;HP:0000252 34379057;34764295 False 3 100;0;0 1.295 True ENSG00000054793 ENSG00000054793 HGNC:13540 ATR gene ATR Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1, MIM# 210600 Microcephaly;HP:0000252 12640452;19620979;30199583;23111928 False 3 100;0;0 1.295 True ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ATR-X-related syndrome MONDO:0016980 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000085224 ENSG00000085224 HGNC:886 AUTS2 gene AUTS2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder, autosomal dominant 26 MIM#615834" Microcephaly;HP:0000252 PMID: 35802027;34573342 False 3 100;0;0 1.295 True ENSG00000158321 ENSG00000158321 HGNC:14262 BCAS3 gene BCAS3 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, MIM# 619641 Microcephaly;HP:0000252 34022130 False 3 100;0;0 1.295 True ENSG00000141376 ENSG00000141376 HGNC:14347 BLM gene BLM Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Bloom syndrome (MIM#210900)" Microcephaly;HP:0000252 30214071;29056561;23928670 False 3 100;0;0 1.295 True ENSG00000197299 ENSG00000197299 HGNC:1058 BPTF gene BPTF Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 Microcephaly;HP:0000252 28942966 False 3 100;0;0 1.295 True ENSG00000171634 ENSG00000171634 HGNC:3581 BRCA2 gene BRCA2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group D1 (MIM#605724)" Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRD4 gene BRD4 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 6, MIM# 620568 Microcephaly;HP:0000252 29379197;30302754;11997514;34035299 False 3 50;50;0 1.295 True ENSG00000141867 ENSG00000141867 HGNC:13575 BRIP1 gene BRIP1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group J (MIM#609054)" Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000136492 ENSG00000136492 HGNC:20473 BUB1B gene BUB1B Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1 (MIM#257300) Microcephaly;HP:0000252 18548531;21190457;15475955;15098245 False 3 100;0;0 1.295 True ENSG00000156970 ENSG00000156970 HGNC:1149 CAMK2B gene CAMK2B Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 54, MIM# 617799;microcephaly;intellectual disability;behavioural problems" Microcephaly;HP:0000252 32875707 False 3 100;0;0 1.295 True ENSG00000058404 ENSG00000058404 HGNC:1461 CAMSAP1 gene CAMSAP1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Microcephaly;HP:0000252 36283405 False 3 100;0;0 1.295 True ENSG00000130559 ENSG00000130559 HGNC:19946 CASK gene CASK Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes Other Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749 Microcephaly;HP:0000252 21954287;19165920;21735175 False 3 100;0;0 1.295 True ENSG00000147044 ENSG00000147044 HGNC:1497 CCDC88A gene CCDC88A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "PEHO syndrome-like (MIM#617507)" Microcephaly;HP:0000252 30392057;26917597 False 3 100;0;0 1.295 True ENSG00000115355 ENSG00000115355 HGNC:25523 CCND2 gene CCND2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, CCND2-related MONDO# 0700092;Microcephaly, MONDO# 0001149 Microcephaly;HP:0000252 34087052 False 3 100;0;0 1.295 True ENSG00000118971 ENSG00000118971 HGNC:1583 CDK5RAP2 gene CDK5RAP2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MIM# 604804;MONDO:0011488 Microcephaly;HP:0000252 15793586;22887808;23995685;23726037;27761245;20460369;32677750;32015000 False 3 100;0;0 1.295 True ENSG00000136861 ENSG00000136861 HGNC:18672 CDT1 gene CDT1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, MIM# 613804;MONDO:0013431 Microcephaly;HP:0000252 21358632;21358631;33338304;22333897 False 3 100;0;0 1.295 True ENSG00000167513 ENSG00000167513 HGNC:24576 CENPF gene CENPF Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Stromme syndrome (MIM#243605)" Microcephaly;HP:0000252 25564561;28407396;27300082;31953238 False 3 100;0;0 1.295 True ENSG00000117724 ENSG00000117724 HGNC:1857 CENPJ gene CENPJ Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029;Seckel syndrome 4, MIM# 613676, MONDO:0013358 Microcephaly;HP:0000252 15793586;16900296;20978018;22775483;20522431;32677750;32549991;30626697;34068194 False 3 100;0;0 1.295 True ENSG00000151849 ENSG00000151849 HGNC:17272 CEP135 gene CEP135 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephalic primordial dwarfism;Microcephaly 8, primary, autosomal recessive, 614673 Microcephaly;HP:0000252 30214071;22521416 False 3 100;0;0 1.295 True ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 9, primary, autosomal recessive, MIM# 614852;MONDO:0013923;Seckel syndrome 5, MIM# 613823;MONDO:0013443 Microcephaly;HP:0000252 20598275;22775483;21131973;23199753 False 3 100;0;0 1.295 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP295 gene CEP295 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 11, OMIM # 620767 Microcephaly;HP:0000252 PMID: 38154379 False 3 100;0;0 1.295 True ENSG00000166004 ENSG00000166004 HGNC:29366 CEP55 gene CEP55 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500;Microcephaly;Intellectual disability" Microcephaly;HP:0000252 32100459 False 3 100;0;0 1.295 True ENSG00000138180 ENSG00000138180 HGNC:1161 CHAMP1 gene CHAMP1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 40 (MIM#616579) Microcephaly;HP:0000252 27148580;26340335 False 3 0;100;0 1.295 True ENSG00000198824 ENSG00000198824 HGNC:20311 CHKA gene CHKA Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Microcephaly;HP:0000252 35202461 False 3 100;0;0 1.295 True ENSG00000110721 ENSG00000110721 HGNC:1937 CIT gene CIT Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Microcephaly 17, primary, autosomal recessive (MIM#617090)" Microcephaly;HP:0000252 27453578;27503289;27453579 False 3 100;0;0 1.295 True ENSG00000122966 ENSG00000122966 HGNC:1985 CKAP2L gene CKAP2L Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Filippi syndrome (MIM#272440)" Microcephaly;HP:0000252 29473684;25439729 False 3 100;0;0 1.295 True ENSG00000169607 ENSG00000169607 HGNC:26877 CLDN5 gene CLDN5 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disorder, MONDO:0002254, CLDN5-related Microcephaly;HP:0000252 PMID: 36477332 False 3 100;0;0 1.295 True ENSG00000184113 ENSG00000184113 HGNC:2047 COASY gene COASY Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 12, MIM#618266 Microcephaly;HP:0000252 30089828;28489334 False 3 100;0;0 1.295 True ENSG00000068120 ENSG00000068120 HGNC:29932 CPSF3 gene CPSF3 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Microcephaly;HP:0000252 35121750 False 3 100;0;0 1.295 True ENSG00000119203 ENSG00000119203 HGNC:2326 CREBBP gene CREBBP Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Menke-Hennekam syndrome 1(MIM#618332);Rubinstein-Taybi syndrome 1(MIM#180849) Microcephaly;HP:0000252 27311832;29460469;24989455 False 3 100;0;0 1.295 True ENSG00000005339 ENSG00000005339 HGNC:2348 CRIPT gene CRIPT Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature with microcephaly and distinctive facies (MIM#615789);Rothmund-Thomson syndrome MONDO:0010002 Microcephaly;HP:0000252 24389050;27250922;36630262;37013901 False 3 67;33;0 1.295 True ENSG00000119878 ENSG00000119878 HGNC:14312 CRNKL1 gene CRNKL1 Expert Review Green;Other Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000101343 ENSG00000101343 HGNC:15762 CSMD1 gene CSMD1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Microcephaly;HP:0000252 PMID:38816421 False 3 100;0;0 1.295 True ENSG00000183117 ENSG00000183117 HGNC:14026 CSNK2A1 gene CSNK2A1 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Okur-Chung neurodevelopmental syndrome MIM#617062" Microcephaly;HP:0000252 29240241 False 3 100;0;0 1.295 True ENSG00000101266 ENSG00000101266 HGNC:2457 CTCF gene CTCF Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 21 (MIM#615502) Microcephaly;HP:0000252 23746550;30893510;28619046 False 3 100;0;0 1.295 True ENSG00000102974 ENSG00000102974 HGNC:13723 CTNNA2 gene CTNNA2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Microcephaly;HP:0000252 30013181 False 3 100;0;0 1.295 True ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with spastic diplegia and visual defects (MIM#615075);Exudative vitreoretinopathy 7 (MIM#617572)" Microcephaly;HP:0000252 25326669;32039639 False 3 100;0;0 1.295 True ENSG00000168036 ENSG00000168036 HGNC:2514 CTU2 gene CTU2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142) Microcephaly;HP:0000252 26633546 False 3 100;0;0 1.295 True ENSG00000174177 ENSG00000174177 HGNC:28005 DDX11 gene DDX11 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome, MIM# 613398;MONDO:0013252 Microcephaly;HP:0000252 31824187;20137776;23033317;30216658 False 3 100;0;0 1.295 True ENSG00000013573 ENSG00000013573 HGNC:2736 DDX3X gene DDX3X Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958) Microcephaly;HP:0000252 26235985 False 3 100;0;0 1.295 True ENSG00000215301 ENSG00000215301 HGNC:2745 DHCR7 gene DHCR7 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Smith-Lemli-Opitz syndrome 270400" Microcephaly;HP:0000252 9634533;12949967;15670717;14981719 False 3 100;0;0 1.295 True ENSG00000172893 ENSG00000172893 HGNC:2860 DIAPH1 gene DIAPH1 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome 616632 Microcephaly;HP:0000252 PMID: 24781755;26463574 False 3 100;0;0 1.295 True ENSG00000131504 ENSG00000131504 HGNC:2876 DNA2 gene DNA2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 8, MIM#615807 Microcephaly;HP:0000252 24389050;31045292 False 3 100;0;0 1.295 True ENSG00000138346 ENSG00000138346 HGNC:2939 DNMT3A gene DNMT3A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted intellectual disability;microcephaly;short stature Microcephaly;HP:0000252 30478443 False 3 100;0;0 1.295 True Other ENSG00000119772 ENSG00000119772 HGNC:2978 DOHH gene DOHH Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Microcephaly;HP:0000252 PMID: 35858628 False 3 100;0;0 1.295 True ENSG00000129932 ENSG00000129932 HGNC:28662 DONSON gene DONSON Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and limb abnormalities, MIM# 617604;Microcephaly-micromelia syndrome, MIM# 251230;MONDO:0009619 Microcephaly;HP:0000252 28191891;28630177;28191891 False 3 100;0;0 1.295 True ENSG00000159147 ENSG00000159147 HGNC:2993 DPM1 gene DPM1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie 608799 Microcephaly;HP:0000252 PMID:16641202;10642602;10642597 False 3 100;0;0 1.295 True ENSG00000000419 ENSG00000000419 HGNC:3005 DRG1 gene DRG1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Tan-Almurshedi syndrome, MIM# 620641 Microcephaly;HP:0000252 PMID: 37179472 False 3 100;0;0 1.295 True ENSG00000185721 ENSG00000185721 HGNC:3029 DTYMK gene DTYMK Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Microcephaly;HP:0000252 34918187;31271740 False 3 100;0;0 1.295 True ENSG00000168393 ENSG00000168393 HGNC:3061 DYNC1I2 gene DYNC1I2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492" Microcephaly;HP:0000252 31079899 False 3 100;0;0 1.295 True ENSG00000077380 ENSG00000077380 HGNC:2964 DYRK1A gene DYRK1A Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 7, MIM# 614104;MONDO:0013578 Microcephaly;HP:0000252 21294719;23160955;23099646;33159716;25707398 False 3 100;0;0 1.295 True ENSG00000157540 ENSG00000157540 HGNC:3091 EFTUD2 gene EFTUD2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536;Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Microcephaly;HP:0000252 22305528;23188108;33601405;33262786;26507355 False 3 100;0;0 1.295 True ENSG00000108883 ENSG00000108883 HGNC:30858 EIF2S3 gene EIF2S3 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, MIM# 300148 Microcephaly;HP:0000252 23063529;27333055;28055140;32799315 False 3 100;0;0 1.295 True ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal EIF3F-related neurodevelopmental disorder;Mental retardation, autosomal recessive 67, MIM# 618295 Microcephaly;HP:0000252 PMID: 33736665 False 3 100;0;0 1.295 True ENSG00000175390 ENSG00000175390 HGNC:3275 EIF5A gene EIF5A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Faundes-Banka syndrome, MIM# 619376;Intellectual disability;microcephaly;dysmorphism Microcephaly;HP:0000252 33547280 False 3 100;0;0 1.295 True ENSG00000132507 ENSG00000132507 HGNC:3300 ERCC4 gene ERCC4 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group Q (MIM#615272);Cockayne syndrome (MIM#278760)" Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6 gene ERCC6 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, MIM#133540;Cerebrooculofacioskeletal syndrome 1, MIM#214150;De Sanctis-Cacchione syndrome, MIM#278800 Microcephaly;HP:0000252 PMID: 20301516 False 3 100;0;0 1.295 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400 Microcephaly;HP:0000252 14661080;21108394 False 3 100;0;0 1.295 True ENSG00000049167 ENSG00000049167 HGNC:3439 EXOC7 gene EXOC7 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal brain atrophy;seizures;developmental delay;microcephaly Microcephaly;HP:0000252 PMID: 32103185 False 3 100;0;0 1.295 True ENSG00000182473 ENSG00000182473 HGNC:23214 FAM20C gene FAM20C Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal lethal osteosclerotic bone dysplasia MONDO:0009821 Microcephaly;HP:0000252 34360805 False 3 100;0;0 1.295 True ENSG00000177706 ENSG00000177706 HGNC:22140 FANCA gene FANCA Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group A (MIM#227650)" Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Fanconi anemia, complementation group B, MIM# 300514" Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group C (MIM#227645)" Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia 227646 Microcephaly;HP:0000252 PMID:20301575 False 3 100;0;0 1.295 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E, MIM#600901 Microcephaly;HP:0000252 PMID: 20301575 False 3 100;0;0 1.295 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group F, MIM# 603467" Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G MIM#614082 Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group I (MIM#609053)" Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group L, MIM# 614083" Microcephaly;HP:0000252 20301575 False 3 100;0;0 1.295 True ENSG00000115392 ENSG00000115392 HGNC:20748 FBRSL1 gene FBRSL1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malformation and intellectual disability syndrome Microcephaly;HP:0000252 PMID: 32424618 False 3 100;0;0 1.295 True ENSG00000112787 ENSG00000112787 HGNC:29308 FDXR gene FDXR Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM# 617717;Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Microcephaly;HP:0000252 30250212;28965846;29040572;33348459;37046037;37481223 False 3 100;0;0 1.295 True ENSG00000161513 ENSG00000161513 HGNC:3642 FILIP1 gene FILIP1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Microcephaly;HP:0000252 36943452 False 3 100;0;0 1.295 True ENSG00000118407 ENSG00000118407 HGNC:21015 FLVCR1 gene FLVCR1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060 Microcephaly;HP:0000252 39306721 False 3 100;0;0 1.295 True ENSG00000162769 ENSG00000162769 HGNC:24682 FOXG1 gene FOXG1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett syndrome, congenital variant, MIM# 613454 Microcephaly;HP:0000252 21441262;19564653;19578037 False 3 100;0;0 1.295 True ENSG00000176165 ENSG00000176165 HGNC:3811 FRA10AC1 gene FRA10AC1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Microcephaly;HP:0000252 34694367 False 3 100;0;0 1.295 True ENSG00000148690 ENSG00000148690 HGNC:1162 GABRB2 gene GABRB2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Microcephaly;HP:0000252 38996765 False 3 100;0;0 1.295 True Other ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 43 MIM#617113 Microcephaly;HP:0000252 37647766 False 3 100;0;0 1.295 True Other ENSG00000166206 ENSG00000166206 HGNC:4083 GINS3 gene GINS3 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Microcephaly;HP:0000252 35603789 False 3 100;0;0 1.295 True ENSG00000181938 ENSG00000181938 HGNC:25851 GMNN gene GMNN Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Meier-Gorlin syndrome 6, MIM# 616835" Microcephaly;HP:0000252 26637980 False 3 100;0;0 1.295 True ENSG00000112312 ENSG00000112312 HGNC:17493 GOLGA2 gene GOLGA2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Microcephaly;HP:0000252 PMID: 30237576;26742501;34424553 False 3 100;0;0 1.295 True ENSG00000167110 ENSG00000167110 HGNC:4425 GON7 gene GON7 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 9, MIM# 619603 Microcephaly;HP:0000252 31481669 False 3 100;0;0 1.295 True ENSG00000170270 ENSG00000170270 HGNC:20356 GPT2 gene GPT2 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Microcephaly;HP:0000252 27601654;25758935 False 3 100;0;0 1.295 True ENSG00000166123 ENSG00000166123 HGNC:18062 GRM7 gene GRM7 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Epilepsy, microcephaly, developmental delay;neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Microcephaly;HP:0000252 32286009;32248644 False 3 100;0;0 1.295 True ENSG00000196277 ENSG00000196277 HGNC:4599 GTPBP1 gene GTPBP1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888 Microcephaly;HP:0000252 38118446 False 3 100;0;0 1.295 True ENSG00000100226 ENSG00000100226 HGNC:4669 GTPBP2 gene GTPBP2 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, MIM#617988 Microcephaly;HP:0000252 26675814;29449720;30790272 False 3 100;0;0 1.295 True ENSG00000172432 ENSG00000172432 HGNC:4670 HDAC8 gene HDAC8 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Cornelia de Lange syndrome 5, MIM# 300882" Microcephaly;HP:0000252 24403048 False 3 100;0;0 1.295 True ENSG00000147099 ENSG00000147099 HGNC:13315 HHAT gene HHAT Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nivelon-Nivelon-Mabille syndrome 600092 Microcephaly;HP:0000252 24784881;30912300;33749989 False 3 100;0;0 1.295 True ENSG00000054392 ENSG00000054392 HGNC:18270 HIST1H4C gene HIST1H4C Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Microcephaly;HP:0000252 28920961 False 3 100;0;0 1.295 True ENSG00000197061 ENSG00000197061 HGNC:4787 HIST1H4E gene HIST1H4E Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950 Microcephaly;HP:0000252 35202563 False 3 100;0;0 1.295 True - - HGNC:4790 HMGB1 gene HMGB1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay and microcephaly, no OMIM # Microcephaly;HP:0000252 PMID: 34164801 False 3 100;0;0 1.295 True ENSG00000189403 ENSG00000189403 HGNC:4983 HPDL gene HPDL Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MIM#619026) Microcephaly;HP:0000252 33188300 False 3 100;0;0 1.295 True ENSG00000186603 ENSG00000186603 HGNC:28242 IARS gene IARS Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093" Microcephaly;HP:0000252 27426735;27891590 False 3 100;0;0 1.295 True ENSG00000196305 ENSG00000196305 HGNC:5330 IER3IP1 gene IER3IP1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231;Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Microcephaly;HP:0000252 21835305;22991235;24138066;28711742 False 3 100;0;0 1.295 True ENSG00000134049 ENSG00000134049 HGNC:18550 IGF1 gene IGF1 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM# 608747" Microcephaly;HP:0000252 15769976;14684690;8857020 False 3 100;0;0 1.295 True ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Insulin-like growth factor I, resistance to, MIM# 270450" Microcephaly;HP:0000252 14657428;25040157;23045302;26252249;15928254 False 3 100;0;0 1.295 True ENSG00000140443 ENSG00000140443 HGNC:5465 INPP4A gene INPP4A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal INPP4A-related neurodevelopmental disorder Microcephaly;HP:0000252 PMID: 39315527 False 3 100;0;0 1.295 False ENSG00000040933 ENSG00000040933 HGNC:6074 KBTBD2 gene KBTBD2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, KBTBD2-related Microcephaly;HP:0000252 39313616 False 3 100;0;0 1.295 True ENSG00000170852 ENSG00000170852 HGNC:21751 KCNJ6 gene KCNJ6 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keppen-Lubinsky syndrome, MIM# 614098;MONDO:0013572 Microcephaly;HP:0000252 25620207;29852244 False 3 100;0;0 1.295 True ENSG00000157542 ENSG00000157542 HGNC:6267 KCNK3 gene KCNK3 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNK3-related;developmental delay with sleep apnoea (DDSA) Microcephaly;HP:0000252 36195757 False 3 100;0;0 1.295 True ENSG00000171303 ENSG00000171303 HGNC:6278 KIF11 gene KIF11 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 Microcephaly;HP:0000252 22284827;25115524;25124931;27212378;32730767;31993640;25996076 False 3 100;0;0 1.295 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIF14 gene KIF14 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, autosomal recessive, MIM# 617914 Microcephaly;HP:0000252 28892560;29343805 False 3 100;0;0 1.295 True ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1BP gene KIF1BP Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Goldberg-Shprintzen megacolon syndrome, MIM# 609460" Microcephaly;HP:0000252 23427148 False 3 100;0;0 1.295 True ENSG00000198954 ENSG00000198954 HGNC:23419 KIF21B gene KIF21B Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay;Intellectual disability;Abnormality of brain morphology;Microcephaly Microcephaly;HP:0000252 32415109 False 3 100;0;0 1.295 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000116852 ENSG00000116852 HGNC:29442 KIF2A gene KIF2A Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Microcephaly;HP:0000252 23603762;27896282;27747449;29077851;31919497 False 3 100;0;0 1.295 True ENSG00000068796 ENSG00000068796 HGNC:6318 KMT2E gene KMT2E Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown O'Donnell-Luria-Rodan syndrome MIM#618512 Microcephaly;HP:0000252 PMID: 31079897;33111303 False 3 100;0;0 1.295 True Other ENSG00000005483 ENSG00000005483 HGNC:18541 KNL1 gene KNL1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 4, primary, autosomal recessive, MIM# 604321;MONDO:0011437 Microcephaly;HP:0000252 22983954;26626498;27149178;30304678;27784895 False 3 100;0;0 1.295 True ENSG00000137812 ENSG00000137812 HGNC:24054 LAGE3 gene LAGE3 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Microcephaly;HP:0000252 28805828 False 3 100;0;0 1.295 True ENSG00000196976 ENSG00000196976 HGNC:26058 LARP7 gene LARP7 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Alazami syndrome, MIM# 615071;Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Microcephaly;HP:0000252 22865833;21937992;30006060;33569879 False 3 100;0;0 1.295 True ENSG00000174720 ENSG00000174720 HGNC:24912 LHX2 gene LHX2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO: 0700092) Microcephaly;HP:0000252 PMID: 37057675 False 3 100;0;0 1.295 True ENSG00000106689 ENSG00000106689 HGNC:6594 LIG4 gene LIG4 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593;DNA ligase IV deficiency, MONDO:0011686 Microcephaly;HP:0000252 11779494;16088910;15333585;16357942;32534991;32471509 False 3 100;0;0 1.295 True ENSG00000174405 ENSG00000174405 HGNC:6601 LMNB1 gene LMNB1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 26, primary, autosomal dominant, MIM# 619179;Global developmental delay;Intellectual disability;Microcephaly;Short stature;Seizures;Abnormality of the corpus callosum;Cortical gyral simplification;Feeding difficulties;Scoliosis Microcephaly;HP:0000252 32910914;33033404 False 3 100;0;0 1.295 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LMNB2 gene LMNB2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 27, primary, autosomal dominant, MIM# 619180;Congenital microcephaly;Global developmental delay;Intellectual disability Microcephaly;HP:0000252 33033404 False 3 100;0;0 1.295 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000176619 ENSG00000176619 HGNC:6638 MCPH1 gene MCPH1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, MIM# 251200;MONDO:0009617 Microcephaly;HP:0000252 12046007;15199523;16311745;20978018;32294449;30351297;29026105 False 3 100;0;0 1.295 True ENSG00000147316 ENSG00000147316 HGNC:6954 MECP2 gene MECP2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rett syndrome, MIM# 312750;Encephalopathy, neonatal severe 300673 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000169057 ENSG00000169057 HGNC:6990 MED17 gene MED17 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668 Microcephaly;HP:0000252 20950787;30345598;26004231 False 3 100;0;0 1.295 True ENSG00000042429 ENSG00000042429 HGNC:2375 MFSD2A gene MFSD2A Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 15, primary, autosomal recessive, MIM# 616486 Microcephaly;HP:0000252 26005865;26005868;24828044 False 3 100;0;0 1.295 True ENSG00000168389 ENSG00000168389 HGNC:25897 MINPP1 gene MINPP1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 16, MIM# 619527 Microcephaly;HP:0000252 33257696 False 3 100;0;0 1.295 True ENSG00000107789 ENSG00000107789 HGNC:7102 MORC2 gene MORC2 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay;Intellectual disability;Growth retardation;Microcephaly;Craniofacial dysmorphism;Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Microcephaly;HP:0000252 32693025 False 3 100;0;0 1.295 True ENSG00000133422 ENSG00000133422 HGNC:23573 MSMO1 gene MSMO1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834;MONDO:0014793 Microcephaly;HP:0000252 21285510;24144731;28673550;33161406 False 3 100;0;0 1.295 True ENSG00000052802 ENSG00000052802 HGNC:10545 MTSS1L gene MTSS1L Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086" Microcephaly;HP:0000252 PMID: 36067766 False 3 100;0;0 1.295 True ENSG00000132613 ENSG00000132613 HGNC:25094 MYCN gene MYCN Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Feingold syndrome 1, MIM# 164280" Microcephaly;HP:0000252 18470948 False 3 100;0;0 1.295 True ENSG00000134323 ENSG00000134323 HGNC:7559 MYH10 gene MYH10 Expert list;Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Microcephaly;HP:0000252 24825879;24901346;25356899;22495309;25003005 False 3 100;0;0 1.295 True ENSG00000133026 ENSG00000133026 HGNC:7568 NAA20 gene NAA20 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 73, MIM# 619717 Microcephaly;HP:0000252 PMID: 34230638 False 3 100;0;0 1.295 True ENSG00000173418 ENSG00000173418 HGNC:15908 NALCN gene NALCN Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419 Microcephaly;HP:0000252 25683120;23749988;24075186;30167850 False 3 100;0;0 1.295 True ENSG00000102452 ENSG00000102452 HGNC:19082 NAPB gene NAPB Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 107 MIM#620033 Microcephaly;HP:0000252 26235277;28097321;33189936 False 3 100;0;0 1.295 True ENSG00000125814 ENSG00000125814 HGNC:15751 NARS gene NARS Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092 Microcephaly;HP:0000252 32738225;32788587 False 3 100;0;0 1.295 True ENSG00000134440 ENSG00000134440 HGNC:7643 NBN gene NBN Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260;MONDO:0009623 Microcephaly;HP:0000252 33488600;33082212 False 3 100;0;0 1.295 True ENSG00000104320 ENSG00000104320 HGNC:7652 NCAPD2 gene NCAPD2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 21, primary, autosomal recessive;OMIM #617983 Microcephaly;HP:0000252 31056748;27737959;28097321 False 3 100;0;0 1.295 True ENSG00000010292 ENSG00000010292 HGNC:24305 NDE1 gene NDE1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), MIM# 614019;MONDO:0013527;Microhydranencephaly, MIM# 605013;MONDO:0011504 Microcephaly;HP:0000252 21529752;21529751;30637988;15473967 False 3 100;0;0 1.295 True ENSG00000072864 ENSG00000072864 HGNC:17619 NHEJ1 gene NHEJ1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;Cernunnos-XLF deficiency MONDO:0012650 Microcephaly;HP:0000252 30898087;30666249;28741180;25288157;24511403;21721379;21535335 False 3 100;0;0 1.295 True ENSG00000187736 ENSG00000187736 HGNC:25737 NIPBL gene NIPBL Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 1, MIM# 122470" Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000164190 ENSG00000164190 HGNC:28862 NSD2 gene NSD2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rauch-Steindl syndrome, MIM# 619695;Microcephaly;intellectual disability Microcephaly;HP:0000252 30345613;31171569 False 3 100;0;0 1.295 True ENSG00000109685 ENSG00000109685 HGNC:12766 NSRP1 gene NSRP1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Epilepsy;Cerebral palsy;microcephaly;Intellectual disability Microcephaly;HP:0000252 34385670 False 3 50;50;0 1.295 True ENSG00000126653 ENSG00000126653 HGNC:25305 NUP107 gene NUP107 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 7, MIM# 618348 Microcephaly;HP:0000252 28280135;28117080;30179222;25558065 False 3 100;0;0 1.295 True ENSG00000111581 ENSG00000111581 HGNC:29914 NUP188 gene NUP188 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, 618804;microcephaly;ID;cataract;structural brain abnormalities;hypoventilation Microcephaly;HP:0000252 32021605;28726809;32275884 False 3 100;0;0 1.295 True ENSG00000095319 ENSG00000095319 HGNC:17859 ORC1 gene ORC1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, MIM# 224690;MONDO:0009143 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, MIM# 613800;MONDO:0013428 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, MIM# 613803 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000091651 ENSG00000091651 HGNC:17151 OSGEP gene OSGEP Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, MIM# 617729 Microcephaly;HP:0000252 28805828;28272532 False 3 100;0;0 1.295 True ENSG00000092094 ENSG00000092094 HGNC:18028 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 1, MIM# 607432;Subcortical laminar heterotopia, MIM# 607432;MONDO:0011830 Microcephaly;HP:0000252 11754098;18285425 False 3 100;0;0 1.295 True ENSG00000007168 ENSG00000007168 HGNC:8574 PARP6 gene PARP6 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly Microcephaly;HP:0000252 34067418 False 3 100;0;0 1.295 True ENSG00000137817 ENSG00000137817 HGNC:26921 PCDH12 gene PCDH12 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Microcephaly;HP:0000252 27164683;22822038;30178464 False 3 100;0;0 1.295 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCNT gene PCNT Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720;MONDO:0008872 Microcephaly;HP:0000252 18174396;12210304;30922925;33460028;32557621;32267100 False 3 100;0;0 1.295 True ENSG00000160299 ENSG00000160299 HGNC:16068 PDHA1 gene PDHA1 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170" Microcephaly;HP:0000252 8032855 False 3 100;0;0 1.295 True ENSG00000131828 ENSG00000131828 HGNC:8806 PIGH gene PIGH Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Microcephaly;HP:0000252 29573052 False 3 100;0;0 1.295 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIP5K1C gene PIP5K1C Expert Review Green;Other Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Microcephaly;HP:0000252 37451268 False 3 100;0;0 1.295 True ENSG00000186111 ENSG00000186111 HGNC:8996 PLK1 gene PLK1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Epilepsy;microcephaly;intellectual disability Microcephaly;HP:0000252 33875846 False 3 100;0;0 1.295 True ENSG00000166851 ENSG00000166851 HGNC:9077 PLK4 gene PLK4 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Microcephaly;HP:0000252 25344692;25320347;27650967 False 3 100;0;0 1.295 True ENSG00000142731 ENSG00000142731 HGNC:11397 PNKP gene PNKP Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures, and developmental delay, MIM# 613402;MONDO:0013254 Microcephaly;HP:0000252 20118933;23224214;32980744;31707899 False 3 100;0;0 1.295 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA8 gene PNPLA8 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Microcephaly;HP:0000252 PMID: 39082157 False 3 100;0;0 1.295 True ENSG00000135241 ENSG00000135241 HGNC:28900 POC1A gene POC1A Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813 Microcephaly;HP:0000252 22840364;22840363;26374189;26162852;26791357 False 3 100;0;0 1.295 True ENSG00000164087 ENSG00000164087 HGNC:24488 POGZ gene POGZ Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White-Sutton syndrome, MIM# 616364 Microcephaly;HP:0000252 26942287 False 3 100;0;0 1.295 True ENSG00000143442 ENSG00000143442 HGNC:18801 POLE gene POLE Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal IMAGE-I syndrome, MIM# 618336 Microcephaly;HP:0000252 PMID: 30503519 False 3 100;0;0 1.295 True ENSG00000177084 ENSG00000177084 HGNC:9177 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000130714 ENSG00000130714 HGNC:9202 PPFIBP1 gene PPFIBP1 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Microcephaly;HP:0000252 35830857 False 3 100;0;0 1.295 True ENSG00000110841 ENSG00000110841 HGNC:9249 PPIL1 gene PPIL1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 14, MIM# 619301;microcephaly;seizures Microcephaly;HP:0000252 33220177 False 3 100;0;0 1.295 True ENSG00000137168 ENSG00000137168 HGNC:9260 PPP2R1A gene PPP2R1A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 36, MIM#616362;Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Microcephaly;HP:0000252 PMID: 33106617;26168268 False 3 100;0;0 1.295 True Other ENSG00000105568 ENSG00000105568 HGNC:9302 PQBP1 gene PQBP1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, MIM# 309500 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000102103 ENSG00000102103 HGNC:9330 PRUNE1 gene PRUNE1 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481" Microcephaly;HP:0000252 26539891;28334956;33105479 False 3 100;0;0 1.295 True ENSG00000143363 ENSG00000143363 HGNC:13420 PTPN23 gene PTPN23 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Microcephaly;HP:0000252 31395947;29899372;29090338;27848944;25558065 False 3 100;0;0 1.295 True ENSG00000076201 ENSG00000076201 HGNC:14406 PUF60 gene PUF60 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, MIM# 615583 Microcephaly;HP:0000252 28327570 False 3 100;0;0 1.295 True ENSG00000179950 ENSG00000179950 HGNC:17042 PUS7 gene PUS7 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature;OMIM #618342 Microcephaly;HP:0000252 30526862;30778726;31583274 False 3 100;0;0 1.295 True ENSG00000091127 ENSG00000091127 HGNC:26033 RAB18 gene RAB18 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Microcephaly;HP:0000252 11237903;23420520 False 3 100;0;0 1.295 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118 Microcephaly;HP:0000252 15696165;20512159;23420520 False 3 100;0;0 1.295 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2, MIM# 614225 Microcephaly;HP:0000252 23420520;20967465 False 3 100;0;0 1.295 True ENSG00000118873 ENSG00000118873 HGNC:17168 RABGAP1 gene RABGAP1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Microcephaly;HP:0000252 36083289 False 3 100;0;0 1.295 True ENSG00000011454 ENSG00000011454 HGNC:17155 RAC1 gene RAC1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 48, MIM# 617751 Microcephaly;HP:0000252 30042656;29276006;30293988;35139179 False 3 100;0;0 1.295 True ENSG00000136238 ENSG00000136238 HGNC:9801 RAD21 gene RAD21 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 4, MIM# 614701" Microcephaly;HP:0000252 22633399;32193685 False 3 100;0;0 1.295 True ENSG00000164754 ENSG00000164754 HGNC:9811 RARS2 gene RARS2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, MIM# 611523 Microcephaly;HP:0000252 17847012;20635367;25809939 False 3 100;0;0 1.295 True ENSG00000146282 ENSG00000146282 HGNC:21406 RBBP8 gene RBBP8 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Jawad syndrome, MIM# 251255;Seckel syndrome 2, MIM# 606744 Microcephaly;HP:0000252 26333564;24440292;21998596;24389050 False 3 100;0;0 1.295 True ENSG00000101773 ENSG00000101773 HGNC:9891 RNF113A gene RNF113A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Trichothiodystrophy 5, nonphotosensitive;OMIM #300953 Microcephaly;HP:0000252 25612912;31793730;31880405 False 3 100;0;0 1.295 True ENSG00000125352 ENSG00000125352 HGNC:12974 RNU4ATAC gene RNU4ATAC Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 Microcephaly;HP:0000252 21474760;20301772 False 3 100;0;0 1.295 True ENSG00000264229 ENSG00000264229 HGNC:34016 RPL10 gene RPL10 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked, syndromic, 35, MIM# 300998" Microcephaly;HP:0000252 25316788;25846674;26290468 False 3 100;0;0 1.295 True ENSG00000147403 ENSG00000147403 HGNC:10298 RTTN gene RTTN Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833;Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764 Microcephaly;HP:0000252 22939636;26608784;26940245;30121372;29967526;30927481;30121372 False 3 100;0;0 1.295 True ENSG00000176225 ENSG00000176225 HGNC:18654 SARS gene SARS Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#070009, SARS1-related Microcephaly;HP:0000252 35790048;28236339;34570399 False 3 100;0;0 1.295 True ENSG00000031698 ENSG00000031698 HGNC:10537 SASS6 gene SASS6 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 14, primary, autosomal recessive, MIM# 616402 Microcephaly;HP:0000252 24951542;30639237;38501757;36739862 False 3 50;50;0 1.295 True ENSG00000156876 ENSG00000156876 HGNC:25403 SETD2 gene SETD2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rabin-Pappas syndrome,MIM# 620155 Microcephaly;HP:0000252 32710489 False 3 100;0;0 1.295 True ENSG00000181555 ENSG00000181555 HGNC:18420 SHMT2 gene SHMT2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121;Congenital microcephaly;Infantile axial hypotonia;Spastic paraparesis;Global developmental delay;Intellectual disability;Abnormality of the corpus callosum;Abnormal cortical gyration;Hypertrophic cardiomyopathy;Abnormality of the face;Proximal placement of thumb;2-3 toe syndactyly Microcephaly;HP:0000252 33015733 False 3 100;0;0 1.295 True ENSG00000182199 ENSG00000182199 HGNC:10852 SLC1A4 gene SLC1A4 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657;MONDO:0014725 Microcephaly;HP:0000252 25930971;26138499;26041762;27193218;29989513 False 3 100;0;0 1.295 True ENSG00000115902 ENSG00000115902 HGNC:10942 SLC2A1 gene SLC2A1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC38A3 gene SLC38A3 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 102, MIM# 619881 Microcephaly;HP:0000252 34605855 False 3 100;0;0 1.295 True ENSG00000188338 ENSG00000188338 HGNC:18044 SLC4A10 gene SLC4A10 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Microcephaly;HP:0000252 PMID: 37459438 False 3 100;0;0 1.295 True ENSG00000144290 ENSG00000144290 HGNC:13811 SLC9A6 gene SLC9A6 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000198689 ENSG00000198689 HGNC:11079 SLF2 gene SLF2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 1, MIM# 620184 Microcephaly;HP:0000252 36333305 False 3 100;0;0 1.295 True ENSG00000119906 ENSG00000119906 HGNC:17814 SLX4 gene SLX4 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, MIM#613951 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCA5 gene SMARCA5 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;microcephaly;dysmorphic features Microcephaly;HP:0000252 33980485 False 3 100;0;0 1.295 True ENSG00000153147 ENSG00000153147 HGNC:11101 SMC1A gene SMC1A Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes Other "Cornelia de Lange syndrome 2, MIM# 300590" Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cornelia de Lange syndrome 3, MIM# 610759" Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000108055 ENSG00000108055 HGNC:2468 SMC5 gene SMC5 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 2, MIM# 620185 Microcephaly;HP:0000252 36333305 False 3 100;0;0 1.295 True ENSG00000198887 ENSG00000198887 HGNC:20465 SMO gene SMO Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Microcephaly, congenital heart disease, polydactyly, aganglionosis;Pallister-Hall-like syndrome , MIM#241800" Microcephaly;HP:0000252 32413283 False 3 100;0;0 1.295 True ENSG00000128602 ENSG00000128602 HGNC:11119 SNAPC4 gene SNAPC4 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515" Microcephaly;HP:0000252 36965478 False 3 100;0;0 1.295 True ENSG00000165684 ENSG00000165684 HGNC:11137 SOX11 gene SOX11 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Microcephaly;HP:0000252 29459093;24886874;33086258;33785884;35642566;35341651 False 3 100;0;0 1.295 True ENSG00000176887 ENSG00000176887 HGNC:11191 SPATA5 gene SPATA5 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Microcephaly;HP:0000252 PMID: 26299366 False 3 100;0;0 1.295 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Microcephaly;HP:0000252 34626583 False 3 100;0;0 1.295 True ENSG00000171763 ENSG00000171763 HGNC:28762 STAMBP gene STAMBP Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, MIM# 614261;MONDO:0013659 Microcephaly;HP:0000252 23542699;31638258;29907875;27531570;25692795;25266620 False 3 100;0;0 1.295 True ENSG00000124356 ENSG00000124356 HGNC:16950 STIL gene STIL Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, autosomal recessive, MIM# 612703;MONDO:0012989 Microcephaly;HP:0000252 19215732;22989186;25218063;33132204;32677750;29230157 False 3 100;0;0 1.295 True ENSG00000123473 ENSG00000123473 HGNC:10879 SVBP gene SVBP Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly;OMIM #618569 Microcephaly;HP:0000252 31363758;30607023 False 3 100;0;0 1.295 True ENSG00000177868 ENSG00000177868 HGNC:29204 TAF2 gene TAF2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 40, MIM# 615599 Microcephaly;HP:0000252 21937992;22633631;26350204;34474177 False 3 50;50;0 1.295 True ENSG00000064313 ENSG00000064313 HGNC:11536 TAF8 gene TAF8 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Microcephaly;HP:0000252 29648665;35759269 False 3 100;0;0 1.295 True ENSG00000137413 ENSG00000137413 HGNC:17300 TBC1D20 gene TBC1D20 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, MIM# 615663 Microcephaly;HP:0000252 24239381 False 3 100;0;0 1.295 True ENSG00000125875 ENSG00000125875 HGNC:16133 TBCD gene TBCD Expert Review;Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Microcephaly;HP:0000252 27666370;27666374 False 3 100;0;0 1.295 True ENSG00000141556 ENSG00000141556 HGNC:11581 TCF4 gene TCF4 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome, MIM# 610954 Microcephaly;HP:0000252 18728071;22934316 False 3 100;0;0 1.295 True ENSG00000196628 ENSG00000196628 HGNC:11634 THUMPD1 gene THUMPD1 Expert Review Green;Other Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000066654 ENSG00000066654 HGNC:23807 TMEM222 gene TMEM222 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470;Intellectual disability;Epilepsy;Microcephaly Microcephaly;HP:0000252 33824500 False 3 100;0;0 1.295 True ENSG00000186501 ENSG00000186501 HGNC:25363 TMX2 gene TMX2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly;ID;brain malformations Microcephaly;HP:0000252 31735293;31586943 False 3 100;0;0 1.295 True ENSG00000213593 ENSG00000213593 HGNC:30739 TNPO2 gene TNPO2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Microcephaly;HP:0000252 34314705 False 3 100;0;0 1.295 True Other ENSG00000105576 ENSG00000105576 HGNC:19998 TOP3A gene TOP3A Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Microcephaly;HP:0000252 30057030;33631320 False 3 100;0;0 1.295 True ENSG00000177302 ENSG00000177302 HGNC:11992 TP53RK gene TP53RK Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4, MIM# 617730 Microcephaly;HP:0000252 28805828;30053862 False 3 100;0;0 1.295 True ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, MIM# 617731 Microcephaly;HP:0000252 28805828;30053862 False 3 100;0;0 1.295 True ENSG00000144034 ENSG00000144034 HGNC:24259 TRA2B gene TRA2B Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 Microcephaly;HP:0000252 PMID: 36549593 False 3 100;0;0 1.295 True ENSG00000136527 ENSG00000136527 HGNC:10781 TRAIP gene TRAIP Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 9, MIM# 616777 Microcephaly;HP:0000252 26595769 False 3 100;0;0 1.295 True ENSG00000183763 ENSG00000183763 HGNC:30764 TRAPPC10 gene TRAPPC10 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Microcephaly;HP:0000252 PMID: 35298461;30167849 False 3 100;0;0 1.295 True ENSG00000160218 ENSG00000160218 HGNC:11868 TRAPPC12 gene TRAPPC12 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 Microcephaly;HP:0000252 32369837;28777934 False 3 100;0;0 1.295 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC6B gene TRAPPC6B Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Microcephaly;HP:0000252 28626029;28397838;31687267 False 3 100;0;0 1.295 True ENSG00000182400 ENSG00000182400 HGNC:23066 TRAPPC9 gene TRAPPC9 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 13, MIM# 613192 Microcephaly;HP:0000252 22549410;20004765;20004763;30853973;29187737 False 3 100;0;0 1.295 True ENSG00000167632 ENSG00000167632 HGNC:30832 TRIO gene TRIO Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 44, MIM# 617061 Microcephaly;HP:0000252 26721934;32109419 False 3 100;0;0 1.295 True ENSG00000038382 ENSG00000038382 HGNC:12303 TRIP13 gene TRIP13 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Microcephaly;HP:0000252 28553959 False 3 100;0;0 1.295 True ENSG00000071539 ENSG00000071539 HGNC:12307 TRMT10A gene TRMT10A Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033;MONDO:0000208 Microcephaly;HP:0000252 24204302;25053765;33448213;33067246;26535115;26526202;26297882 False 3 100;0;0 1.295 True ENSG00000145331 ENSG00000145331 HGNC:28403 TSEN15 gene TSEN15 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F MIM#617026 Microcephaly;HP:0000252 27392077 False 3 100;0;0 1.295 True ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B (MIM#612389) Microcephaly;HP:0000252 23562994;20952379;27392077 False 3 50;50;0 1.295 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753) Microcephaly;HP:0000252 20952379;20301773 False 3 100;0;0 1.295 True ENSG00000182173 ENSG00000182173 HGNC:27561 TTC5 gene TTC5 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244;Intellectual disability;microcephaly Microcephaly;HP:0000252 29302074;32439809 False 3 100;0;0 1.295 True ENSG00000136319 ENSG00000136319 HGNC:19274 TTI1 gene TTI1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Microcephaly;HP:0000252 36724785 False 3 100;0;0 1.295 True ENSG00000101407 ENSG00000101407 HGNC:29029 TTI2 gene TTI2 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 39 (MIM#615541) Microcephaly;HP:0000252 32061250;23956177;31737043 False 3 100;0;0 1.295 True ENSG00000129696 ENSG00000129696 HGNC:26262 TUBB2B gene TUBB2B Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7 MIM#610031 Microcephaly;HP:0000252 19465910;22333901 False 3 100;0;0 1.295 True ENSG00000137285 ENSG00000137285 HGNC:30829 TUBGCP2 gene TUBGCP2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lissencephaly;pachygyria;subcortical band heterotopia;microcephaly;intellectual disability Microcephaly;HP:0000252 31630790 False 3 100;0;0 1.295 True ENSG00000130640 ENSG00000130640 HGNC:18599 TUBGCP4 gene TUBGCP4 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335 Microcephaly;HP:0000252 25817018 False 3 100;0;0 1.295 True ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Microcephaly;HP:0000252 25344692 False 3 100;0;0 1.295 True ENSG00000128159 ENSG00000128159 HGNC:18127 UBA5 gene UBA5 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44 (MIM#617132) Microcephaly;HP:0000252 27545674;27545681 False 3 100;0;0 1.295 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBE3A gene UBE3A Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome MIM#105830 Microcephaly;HP:0000252 False 3 100;0;0 1.295 True ENSG00000114062 ENSG00000114062 HGNC:12496 UBE3B gene UBE3B Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, MIM# 244450;MONDO:0009485 Microcephaly;HP:0000252 23200864;23200864;34012380;32949109 False 3 100;0;0 1.295 True ENSG00000151148 ENSG00000151148 HGNC:13478 UFC1 gene UFC1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth (MIM#618076) Microcephaly;HP:0000252 29868776;30552426 False 3 100;0;0 1.295 True ENSG00000143222 ENSG00000143222 HGNC:26941 UFM1 gene UFM1 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14 MIM#617899 Microcephaly;HP:0000252 28931644;29868776;31914610 False 3 0;100;0 1.295 True ENSG00000120686 ENSG00000120686 HGNC:20597 UGP2 gene UGP2 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy;intellectual disability;microcephaly Microcephaly;HP:0000252 31820119 False 3 100;0;0 1.295 True ENSG00000169764 ENSG00000169764 HGNC:12527 UNC80 gene UNC80 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801;MONDO:0014777 Microcephaly;HP:0000252 26708751;26708753;26545877;29572195 False 3 100;0;0 1.295 True ENSG00000144406 ENSG00000144406 HGNC:26582 VARS gene VARS Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy;OMIM #617802 Microcephaly;HP:0000252 30755616;30755602;26539891;29691655;30275004 False 3 100;0;0 1.295 True ENSG00000204394 ENSG00000204394 HGNC:12651 VPS4A gene VPS4A Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome MIM# 619273 Microcephaly;HP:0000252 33186543;33186545 False 3 100;0;0 1.295 True Other ENSG00000132612 ENSG00000132612 HGNC:13488 VPS50 gene VPS50 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685;Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum Microcephaly;HP:0000252 34037727 False 3 50;50;0 1.295 True ENSG00000004766 ENSG00000004766 HGNC:25956 VRK1 gene VRK1 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A MIM#607596 Microcephaly;HP:0000252 19646678;24126608;27281532;31560180 False 3 100;0;0 1.295 True ENSG00000100749 ENSG00000100749 HGNC:12718 WARS gene WARS Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Microcephaly;HP:0000252 PMID: 35815345;35790048 False 3 100;0;0 1.295 True ENSG00000140105 ENSG00000140105 HGNC:12729 WDFY3 gene WDFY3 Expert list;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly 18, primary, autosomal dominant, MIM#617520 Microcephaly;HP:0000252 31327001;27008544 False 3 100;0;0 1.295 True ENSG00000163625 ENSG00000163625 HGNC:20751 WDR11 gene WDR11 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 78, MIM# 620237;Intellectual disability;Microcephaly;Short stature Microcephaly;HP:0000252 34413497 False 3 100;0;0 1.295 True ENSG00000120008 ENSG00000120008 HGNC:13831 WDR37 gene WDR37 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurooculocardiogenitourinary syndrome MIM#618652 Microcephaly;HP:0000252 31327508;31327510 False 3 100;0;0 1.295 True ENSG00000047056 ENSG00000047056 HGNC:31406 WDR4 gene WDR4 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 6 MIM#618347 Microcephaly;HP:0000252 26416026;28617965;30079490;29597095 False 3 100;0;0 1.295 True ENSG00000160193 ENSG00000160193 HGNC:12756 WDR47 gene WDR47 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Microcephaly;HP:0000252 39609633 False 3 100;0;0 1.295 True ENSG00000085433 ENSG00000085433 HGNC:29141 WDR62 gene WDR62 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317;MONDO:0011435 Microcephaly;HP:0000252 20890279;20729831;20890278;21496009;21834044;22775483;32677750;31788460 False 3 100;0;0 1.295 True ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1 MIM#251300 Microcephaly;HP:0000252 25466283;26123727;25873735;26070982;30315938 False 3 100;0;0 1.295 True ENSG00000177082 ENSG00000177082 HGNC:25928 WLS gene WLS Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Syndromic structural birth defects Microcephaly;HP:0000252 PMID: 34587386 False 3 100;0;0 1.295 True ENSG00000116729 ENSG00000116729 HGNC:30238 XRCC4 gene XRCC4 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction (MIM#616541) Microcephaly;HP:0000252 PMID: 25839420;25728776 False 3 100;0;0 1.295 True ENSG00000152422 ENSG00000152422 HGNC:12831 YIF1B gene YIF1B Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, MIM# 619125;Central hypotonia;Failure to thrive;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Spasticity;Abnormality of movement Microcephaly;HP:0000252 32006098;26077767 False 3 100;0;0 1.295 True ENSG00000167645 ENSG00000167645 HGNC:30511 YIPF5 gene YIPF5 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Microcephaly;HP:0000252 33164986 False 3 100;0;0 1.295 True ENSG00000145817 ENSG00000145817 HGNC:24877 YRDC gene YRDC Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome Microcephaly;HP:0000252 31481669 False 3 100;0;0 1.295 True ENSG00000196449 ENSG00000196449 HGNC:28905 ZBTB18 gene ZBTB18 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 22, MIM# 612337 Microcephaly;HP:0000252 29573576 False 3 100;0;0 1.295 True ENSG00000179456 ENSG00000179456 HGNC:13030 ZEB2 gene ZEB2 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341 Microcephaly;HP:0000252 29300384 False 3 100;0;0 1.295 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZNF335 gene ZNF335 Expert Review Green;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive (MIM#615095) Microcephaly;HP:0000252 23178126;27540107;29652087 False 3 100;0;0 1.295 True ENSG00000198026 ENSG00000198026 HGNC:15807 ZNF526 gene ZNF526 Expert Review Green;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Microcephaly;HP:0000252 21937992;25558065;33397746 False 3 100;0;0 1.295 True ENSG00000167625 ENSG00000167625 HGNC:29415 ZNHIT3 gene ZNHIT3 Expert Review;Expert Review Green Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, MIM# 260565 Microcephaly;HP:0000252 28335020;28335020;31048081 False 3 100;0;0 1.295 True ENSG00000108278 ENSG00000273611 HGNC:12309 ADD3 gene ADD3 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Cerebral palsy, spastic quadriplegic, 3 617008" Microcephaly;HP:0000252 PMID: 23836506;29768408 False 2 100;0;0 1.295 True ENSG00000148700 ENSG00000148700 HGNC:245 AKT3 gene AKT3 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly Microcephaly;HP:0000252 32827175;31929334;30853971;30053339;25424989 False 2 0;100;0 1.295 True ENSG00000117020 ENSG00000117020 HGNC:393 BUB1 gene BUB1 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Primary microcephaly-30 (MCPH30), MIM#620183 Microcephaly;HP:0000252 35044816;19772675;19117986;23209306 False 2 0;100;0 1.295 True ENSG00000169679 ENSG00000169679 HGNC:1148 C7orf43 gene C7orf43 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Microcephaly 25, primary, autosomal recessive, MIM# 618351" Microcephaly;HP:0000252 30715179 False 2 0;100;0 1.295 True ENSG00000146826 ENSG00000146826 HGNC:25604 CCDC84 gene CCDC84 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 4 (MIM#620153) Microcephaly;HP:0000252 34009673 False 2 0;100;0 1.295 True ENSG00000186166 ENSG00000186166 HGNC:30460 CDK13 gene CDK13 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MIM#617360) Microcephaly;HP:0000252 27479907;29021403;31238879 False 2 0;100;0 1.295 True ENSG00000065883 ENSG00000065883 HGNC:1733 CDK6 gene CDK6 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 12, primary, autosomal recessive, MIM#616080 Microcephaly;HP:0000252 23918663 False 2 0;100;0 1.295 True ENSG00000105810 ENSG00000105810 HGNC:1777 CDKL5 gene CDKL5 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 2 (MIM#300672) Microcephaly;HP:0000252 15689447;19396824;22678952;31122804;30928302 False 2 0;100;0 1.295 True ENSG00000008086 ENSG00000008086 HGNC:11411 CEP63 gene CEP63 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6, MIM#614728 Microcephaly;HP:0000252 21983783;26158450 False 2 0;100;0 1.295 True ENSG00000182923 ENSG00000182923 HGNC:25815 CHD4 gene CHD4 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sifrim-Hitz-Weiss syndrome (MIM#617159) Microcephaly;HP:0000252 31388190 False 2 0;100;0 1.295 True ENSG00000111642 ENSG00000111642 HGNC:1919 CLTC gene CLTC Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 56 (MIM#617854) Microcephaly;HP:0000252 31776469 False 2 0;100;0 1.295 True ENSG00000141367 ENSG00000141367 HGNC:2092 COG3 gene COG3 Expert list;Expert Review Amber Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 Microcephaly;HP:0000252 PMID: 37711075 False 2 0;100;0 1.295 True ENSG00000136152 ENSG00000136152 HGNC:18619 COPB2 gene COPB2 Expert list;Expert Review Amber Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Microcephaly 19, primary, autosomal recessive, MIM# 617800" Microcephaly;HP:0000252 37734708;29036432;34450031 False 2 0;100;0 1.295 True ENSG00000184432 ENSG00000184432 HGNC:2232 CYHR1 gene CYHR1 Expert Review Amber;Other Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related Microcephaly;HP:0000252 False 2 0;100;0 1.295 True ENSG00000187954 ENSG00000187954 HGNC:17806 DCAF15 gene DCAF15 Expert Review Amber;Other Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Microcephaly;HP:0000252 False 2 0;100;0 1.295 True ENSG00000132017 ENSG00000132017 HGNC:25095 DNM1L gene DNM1L Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 Microcephaly;HP:0000252 17460227;26992161;30801875 False 2 0;100;0 1.295 True ENSG00000087470 ENSG00000087470 HGNC:2973 DROSHA gene DROSHA Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Microcephaly;HP:0000252 35405010 False 2 0;100;0 1.295 True ENSG00000113360 ENSG00000113360 HGNC:17904 EHMT1 gene EHMT1 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kleefstra syndrome 1 MIM#610253 Microcephaly;HP:0000252 PMID: 29228531;28361100;21910222;19264732 False 2 0;100;0 1.295 True ENSG00000181090 ENSG00000181090 HGNC:24650 ERCC5 gene ERCC5 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3 MIM#616570 Microcephaly;HP:0000252 32052936;24700531 False 2 0;100;0 1.295 True ENSG00000134899 ENSG00000134899 HGNC:3437 FOXR1 gene FOXR1 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Postnatal microcephaly, progressive brain atrophy and global developmental delay Microcephaly;HP:0000252 34723967 False 2 0;100;0 1.295 True ENSG00000176302 ENSG00000176302 HGNC:29980 FRMD4A gene FRMD4A Expert Review;Expert Review Amber Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Intellectual disability;microcephaly;Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Microcephaly;HP:0000252 25388005;30214071 False 2 0;100;0 1.295 True ENSG00000151474 ENSG00000151474 HGNC:25491 KLHL7 gene KLHL7 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal PERCHING syndrome, MIM# 617055 Microcephaly;HP:0000252 27392078;29074562 False 2 0;100;0 1.295 True ENSG00000122550 ENSG00000122550 HGNC:15646 LINGO1 gene LINGO1 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 64, MIM# 618103 Microcephaly;HP:0000252 31668702 False 2 0;100;0 1.295 True ENSG00000169783 ENSG00000169783 HGNC:21205 MCM6 gene MCM6 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, MCM6-related Microcephaly;HP:0000252 PMID: 37198333 False 2 0;100;0 1.295 True ENSG00000076003 ENSG00000076003 HGNC:6949 MCM7 gene MCM7 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome;Microcephaly;Intellectual disability;Lipodystrophy;Adrenal insufficiency Microcephaly;HP:0000252 33654309;34059554 False 2 0;100;0 1.295 True ENSG00000166508 ENSG00000166508 HGNC:6950 MRE11 gene MRE11 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like severe microcephaly Microcephaly;HP:0000252 21227757 False 2 0;100;0 1.295 True ENSG00000020922 ENSG00000020922 HGNC:7230 NACC1 gene NACC1 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination , MIM#617393 Microcephaly;HP:0000252 28132692 False 2 0;100;0 1.295 True ENSG00000160877 ENSG00000160877 HGNC:20967 NCAPD3 gene NCAPD3 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 22, primary, autosomal recessive, MIM# 617984 Microcephaly;HP:0000252 27737959 False 2 0;100;0 1.295 True ENSG00000151503 ENSG00000151503 HGNC:28952 NDUFA2 gene NDUFA2 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Microcephaly;HP:0000252 28857146;32154054;18513682 False 2 0;100;0 1.295 True ENSG00000131495 ENSG00000131495 HGNC:7685 NSMCE2 gene NSMCE2 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal SECKEL SYNDROME 10 Microcephaly;HP:0000252 25105364 False 2 0;100;0 1.295 True ENSG00000156831 ENSG00000156831 HGNC:26513 NUP85 gene NUP85 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Primary microcephaly Microcephaly;HP:0000252 34170319 False 2 0;100;0 1.295 True ENSG00000125450 ENSG00000125450 HGNC:8734 PCGF2 gene PCGF2 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Turnpenny-Fry syndrome, MIM# 618371 Microcephaly;HP:0000252 30343942 False 2 0;100;0 1.295 True ENSG00000056661 ENSG00000277258 HGNC:12929 PDCD6IP gene PDCD6IP Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 29, primary, autosomal recessive, MIM# 620047 Microcephaly;HP:0000252 PMID: 32286682 False 2 0;50;50 1.295 True ENSG00000170248 ENSG00000170248 HGNC:8766 PHC1 gene PHC1 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 11, primary, autosomal recessive, MIM#615414 Microcephaly;HP:0000252 23418308 False 2 0;100;0 1.295 True ENSG00000111752 ENSG00000111752 HGNC:3182 PPP1R15B gene PPP1R15B Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Microcephaly;HP:0000252 26159176;26307080;27640355 False 2 0;100;0 1.295 True ENSG00000158615 ENSG00000158615 HGNC:14951 PRIM1 gene PRIM1 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Microcephaly;HP:0000252 33060134 False 2 0;100;0 1.295 True ENSG00000198056 ENSG00000198056 HGNC:9369 RBL2 gene RBL2 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Severe motor and cognitive impairment;Intellectual disability;Brunet-Wagner neurodevelopmental syndrome MIM#619690 Microcephaly;HP:0000252 PMID: 33980986;32105419;9806916 False 2 0;100;0 1.295 True ENSG00000103479 ENSG00000103479 HGNC:9894 RRP7A gene RRP7A Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly 28, primary, autosomal recessive MIM#619453 Microcephaly;HP:0000252 33199730 False 2 0;100;0 1.295 True ENSG00000189306 ENSG00000189306 HGNC:24286 RUSC2 gene RUSC2 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 61, MIM# 617773" Microcephaly;HP:0000252 27612186 False 2 0;100;0 1.295 True ENSG00000198853 ENSG00000198853 HGNC:23625 SEC31A gene SEC31A Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651" Microcephaly;HP:0000252 30464055 False 2 0;100;0 1.295 True ENSG00000138674 ENSG00000138674 HGNC:17052 SELENOI gene SELENOI Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal developmental delay;spasticity;periventricular white mater abnormalities;peripheral neuropathy;seizures;microcephaly;bifid uvula in some affected individuals Microcephaly;HP:0000252 28052917 False 2 0;100;0 1.295 True ENSG00000138018 ENSG00000138018 HGNC:29361 SLC25A19 gene SLC25A19 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, MIM# 607196 Microcephaly;HP:0000252 12185364 False 2 0;100;0 1.295 True ENSG00000125454 ENSG00000125454 HGNC:14409 SOX5 gene SOX5 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lamb-Shaffer syndrome, MIM#616803 Microcephaly;HP:0000252 PMID: 36861937 False 2 0;100;0 1.295 True ENSG00000134532 ENSG00000134532 HGNC:11201 STAG1 gene STAG1 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 47, MIM# 617635 Microcephaly;HP:0000252 28119487 False 2 0;100;0 1.295 True ENSG00000118007 ENSG00000118007 HGNC:11354 SV2A gene SV2A Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 113, MIM# 620772 Microcephaly;HP:0000252 PMID: 37985816 False 2 0;100;0 1.295 True ENSG00000159164 ENSG00000159164 HGNC:20566 TRIT1 gene TRIT1 Expert Review Amber;Victorian Clinical Genetics Services Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35 MIM#617873 Microcephaly;HP:0000252 32088416;24901367;28185376;30977854 False 2 0;100;0 1.295 True ENSG00000043514 ENSG00000043514 HGNC:20286 VPS51 gene VPS51 Expert list;Expert Review Amber Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 13, MIM# 618606" Microcephaly;HP:0000252 30624672;31207318 False 2 0;100;0 1.295 True ENSG00000149823 ENSG00000149823 HGNC:1172 WNK3 gene WNK3 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Prieto syndrome, MIM# 309610 Microcephaly;HP:0000252 35678782 False 2 0;100;0 1.295 True ENSG00000196632 ENSG00000196632 HGNC:14543 ZNF668 gene ZNF668 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Microcephaly;HP:0000252 34313816;26633546 False 2 0;100;0 1.295 True ENSG00000167394 ENSG00000167394 HGNC:25821 ZNRF3 gene ZNRF3 Expert Review Amber;Literature Microcephaly Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 Microcephaly;HP:0000252 39168120 False 2 0;100;0 1.295 True ENSG00000183579 ENSG00000183579 HGNC:18126