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 ABCB7 gene ABCB7 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, sideroblastic, with ataxia, MIM# 301310 Developmental regression;HP:0002376 10196363;11050011;34354969 False 1 0;0;100 0.572 True ENSG00000131269 ENSG00000131269 HGNC:48 ALG6 gene ALG6 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) Developmental regression;HP:0002376 10914684;27498540 False 1 0;0;100 0.572 True ENSG00000088035 ENSG00000088035 HGNC:23157 ANO3 gene ANO3 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 24, 615034;familial form of cranio-cervical dystonia Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000134343 ENSG00000134343 HGNC:14004 ARL13B gene ARL13B Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Joubert syndrome 8, MIM# 612291 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000169379 ENSG00000169379 HGNC:25419 ATCAY gene ATCAY Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type, MIM# 601238;MONDO:0011025 Developmental regression;HP:0002376 29449188;23226316;26343454;14556008 False 1 0;0;100 0.572 True ENSG00000167654 ENSG00000167654 HGNC:779 ATPAF2 gene ATPAF2 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 1 0;0;100 0.572 False ENSG00000171953 ENSG00000171953 HGNC:18802 BOLA3 gene BOLA3 Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299) Developmental regression;HP:0002376 24334290;29654549;21944046;22562699;26741492;24334290 False 1 100;0;0 0.572 False ENSG00000163170 ENSG00000163170 HGNC:24415 C5orf42 gene C5orf42 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615;MONDO:0013824;Orofaciodigital syndrome VI, MIM# 277170 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000197603 ENSG00000197603 HGNC:25801 CAMTA1 gene CAMTA1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD) Developmental regression;HP:0002376 32157189;22693284 False 1 0;0;100 0.572 True ENSG00000171735 ENSG00000171735 HGNC:18806 CC2D2A gene CC2D2A Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 2, MIM# 619111;Joubert syndrome 9, 612285;Meckel syndrome 6, 612284 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000048342 ENSG00000048342 HGNC:29253 CEP290 gene CEP290 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, MIM# 615991;Joubert syndrome 5 610188;Leber congenital amaurosis 10, MIM# 611755;Meckel syndrome 4, MIM# 611134;Senior-Loken syndrome 6, MIM# 610189 Developmental regression;HP:0002376 18327255;20690115;16682973;16682970;17564967;16909394;17564974 False 1 0;0;100 0.572 True ENSG00000198707 ENSG00000198707 HGNC:29021 CHMP1A gene CHMP1A Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, MIM# 614961 Developmental regression;HP:0002376 23023333 False 1 0;0;100 0.572 True ENSG00000131165 ENSG00000131165 HGNC:8740 CIZ1 gene CIZ1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 23 MIM#614860 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000148337 ENSG00000148337 HGNC:16744 COA5 gene COA5 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 Developmental regression;HP:0002376 21457908 False 1 0;0;100 0.572 True ENSG00000183513 ENSG00000183513 HGNC:33848 CSPP1 gene CSPP1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Developmental regression;HP:0002376 24360808;24360803;24360807;25997910 False 1 0;0;100 0.572 True ENSG00000104218 ENSG00000104218 HGNC:26193 CST3 gene CST3 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000101439 ENSG00000101439 HGNC:2475 DRD2 gene DRD2 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined dystonia, MONDO:0020065, DRD2-related Developmental regression;HP:0002376 33200438 False 1 0;0;100 0.572 True Other ENSG00000149295 ENSG00000149295 HGNC:3023 EEF2 gene EEF2 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 26 Developmental regression;HP:0002376 15732118;23001565 False 1 0;0;100 0.572 True ENSG00000167658 ENSG00000167658 HGNC:3214 FUS gene FUS Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000089280 ENSG00000089280 HGNC:4010 GNAL gene GNAL Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, MIM# 615073;MONDO:0014033 Developmental regression;HP:0002376 23222958;33175450;32180288 False 1 0;0;100 0.572 True ENSG00000141404 ENSG00000141404 HGNC:4388 INPP5E gene INPP5E Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944;Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156;MONDO:0012423 Developmental regression;HP:0002376 19668216;32139166;29230161;29052317;27998989;27401686;19668215 False 1 0;0;100 0.572 True ENSG00000148384 ENSG00000148384 HGNC:21474 LSM11 gene LSM11 Expert Review Red;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8, MIM# 619486 Developmental regression;HP:0002376 PMID: 33230297 False 1 0;0;100 0.572 True ENSG00000155858 ENSG00000155858 HGNC:30860 MMS19 gene MMS19 Expert Review Red;Literature Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegenerative disease, MONDO:0005559, MMS19-related Developmental regression;HP:0002376 38411040 False 1 0;0;100 0.572 True ENSG00000155229 ENSG00000155229 HGNC:13824 NDUFA11 gene NDUFA11 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Developmental regression;HP:0002376 18306244;31074871 False 1 0;0;100 0.572 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA4 gene NDUFA4 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065;Leigh syndrome;Complex IV deficiency Developmental regression;HP:0002376 30361421;28988874;23746447 False 1 0;0;100 0.572 True ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFB3 gene NDUFB3 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, MIM#618246;MONDO:0032629 Developmental regression;HP:0002376 22277967;22499348;27091925 False 1 0;0;100 0.572 True ENSG00000119013 ENSG00000119013 HGNC:7698 NOL3 gene NOL3 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, familial, 1 - MIM#614937 Developmental regression;HP:0002376 22926851 False 1 0;0;100 0.572 True ENSG00000140939 ENSG00000140939 HGNC:7869 PAX6 gene PAX6 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 1 0;0;100 0.572 False ENSG00000007372 ENSG00000007372 HGNC:8620 PDE6D gene PDE6D Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM #615665 Developmental regression;HP:0002376 24166846;30423442 False 1 0;0;0 0.572 True ENSG00000156973 ENSG00000156973 HGNC:8788 PDSS1 gene PDSS1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2 MIM#614651 Developmental regression;HP:0002376 17332895;22494076;33285023 False 1 0;0;100 0.572 True ENSG00000148459 ENSG00000148459 HGNC:17759 PET100 gene PET100 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Developmental regression;HP:0002376 24462369;25293719;31406627 False 1 0;0;100 0.572 True ENSG00000229833 ENSG00000229833 HGNC:40038 PIK3R5 gene PIK3R5 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3, OMIM #615217 Developmental regression;HP:0002376 22065524 False 1 0;0;100 0.572 True ENSG00000141506 ENSG00000141506 HGNC:30035 PNKD gene PNKD Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800;MONDO:0007326 Developmental regression;HP:0002376 15262732;15496428;15824259;19124534;21487022 False 1 0;0;100 0.572 True ENSG00000127838 ENSG00000127838 HGNC:9153 PRICKLE1 gene PRICKLE1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, MIM# 612437 Developmental regression;HP:0002376 34597683;30564977;30345727;29790814;26727662;31035234 False 1 0;0;100 0.572 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRKCG gene PRKCG Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361 Developmental regression;HP:0002376 12644968;14676051;14694043;16193476;33739604;34292398 False 1 0;0;100 0.572 True ENSG00000126583 ENSG00000126583 HGNC:9402 PRKRA gene PRKRA Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 16, MIM# 612067;MONDO:0012789 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000180228 ENSG00000180228 HGNC:9438 SCO1 gene SCO1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Developmental regression;HP:0002376 11013136;19295170;31352446;23878101 False 1 0;0;100 0.572 True ENSG00000133028 ENSG00000133028 HGNC:10603 SGCE gene SGCE Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Dystonia-11, myoclonic, MIM# 159900;MONDO:0008044 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000127990 ENSG00000127990 HGNC:10808 SLC1A3 gene SLC1A3 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 6, MIM# 612656 Developmental regression;HP:0002376 19139306;16116111;29208948;27829685;32741053 False 1 0;0;100 0.572 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC20A2 gene SLC20A2 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1, MIM# 213600 Developmental regression;HP:0002376 22327515;23334463 False 1 0;0;100 0.572 True ENSG00000168575 ENSG00000168575 HGNC:10947 SYT1 gene SYT1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baker-Gordon syndrome, MIM# 618218;MONDO:0033864 Developmental regression;HP:0002376 30107533 False 1 0;0;100 0.572 True ENSG00000067715 ENSG00000067715 HGNC:11509 SYT14 gene SYT14 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 Developmental regression;HP:0002376 21835308 False 1 0;0;100 0.572 True ENSG00000143469 ENSG00000143469 HGNC:23143 TCTN1 gene TCTN1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, MIM# 614173;MONDO:0013608 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 Developmental regression;HP:0002376 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725 False 1 0;0;100 0.572 True ENSG00000168778 ENSG00000168778 HGNC:25774 TDP1 gene TDP1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Developmental regression;HP:0002376 31182267;12244316 False 1 0;0;100 0.572 True ENSG00000042088 ENSG00000042088 HGNC:18884 TGM6 gene TGM6 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 35, MIM# 613908 Developmental regression;HP:0002376 30670339;32426513 False 1 0;0;100 0.572 False ENSG00000166948 ENSG00000166948 HGNC:16255 THAP1 gene THAP1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 6, torsion, 602629;MONDO:0011264 Developmental regression;HP:0002376 21793105;22377579 False 1 0;0;100 0.572 True ENSG00000131931 ENSG00000131931 HGNC:20856 TMEM138 gene TMEM138 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM# 614465;MONDO:0013764 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091;MONDO:0011963;Meckel syndrome 2, MIM# 603194;MONDO:0011296 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;MONDO:0013994;Meckel syndrome 11, MIM# 615397;MONDO:0014164 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 Developmental regression;HP:0002376 22152675 False 1 0;0;100 0.572 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361;Nephronophthisis 11, MIM# 613550;COACH syndrome 1, MIM# 216360 Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000164953 ENSG00000164953 HGNC:28396 TREM2 gene TREM2 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 Developmental regression;HP:0002376 12080485;15883308 False 1 0;0;100 0.572 True ENSG00000095970 ENSG00000095970 HGNC:17761 TSEN34 gene TSEN34 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM# 612390 Developmental regression;HP:0002376 18711368 False 1 0;0;100 0.572 True ENSG00000170892 ENSG00000170892 HGNC:15506 TTC21B gene TTC21B Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM# 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819;Joubert syndrome Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000123607 ENSG00000123607 HGNC:25660 UBR4 gene UBR4 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia;progressive neurological deterioration Developmental regression;HP:0002376 29062094;23982692;28600779 False 1 0;0;100 0.572 True ENSG00000127481 ENSG00000127481 HGNC:30313 VAMP1 gene VAMP1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic ataxia 1, autosomal dominant, MIM# 108600 Developmental regression;HP:0002376 22958904 False 1 0;0;100 0.572 True ENSG00000139190 ENSG00000139190 HGNC:12642 ZIC1 gene ZIC1 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 False 1 0;0;100 0.572 True ENSG00000152977 ENSG00000152977 HGNC:12872 ZIC4 gene ZIC4 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders Unknown Developmental regression;HP:0002376 21204220;15338008 False 1 0;0;100 0.572 True ENSG00000174963 ENSG00000174963 HGNC:20393 ZNF423 gene ZNF423 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844 Developmental regression;HP:0002376 22863007 False 1 0;0;100 0.572 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF592 gene ZNF592 Expert Review Red;Victorian Clinical Genetics Services Regression Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 Developmental regression;HP:0002376 20531441;26123727 False 1 0;0;100 0.572 True ENSG00000166716 ENSG00000166716 HGNC:28986