Microcephaly
Gene: CCDC88A
PMID: 30392057
- consanguineous Saudi family with 2 affecteds. Homozygous for a nonsense variant
- microcephaly, dev delay, ID, epilepsy, dysmorphism and brain atropy
- no measurements provided
PMID: 26917597
- consanguineous family with 3 affecteds. Homozygous fs variant
- infantile hypotonia, dev delay, optic and brain atrophy, seizures and microcephaly (measurements not provided)
- functional studies on KO mice
Sources: LiteratureCreated: 2 Sep 2020, 12:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEHO syndrome-like (MIM#617507)
Publications
Gene: ccdc88a has been classified as Green List (High Evidence).
Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
gene: CCDC88A was added gene: CCDC88A was added to Microcephaly. Sources: Literature Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC88A were set to 30392057; 26917597 Phenotypes for gene: CCDC88A were set to PEHO syndrome-like (MIM#617507) Penetrance for gene: CCDC88A were set to unknown Review for gene: CCDC88A was set to AMBER