Macrocephaly, dysmorphic facies, and psychomotor retardation
OMIM:617011Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | HERC1 |
|---|---|
| Reference transcript | NM_003922.3 |
| DNA Change | c.9748C>T |
| A.A. Change | p.Arg3250X |
| Exon/Intron | exon 49 |
| Mutation Type | substitution |
| Reference | Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L.A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. Eur J Hum Genet. 2015 Jul 8.[Epub ahead of print] |