Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Macrocephaly, dysmorphic facies, and psychomotor retardation

OMIM:617011
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolHERC1
Reference transcriptNM_003922.3
DNA Changec.9748C>T
A.A. Changep.Arg3250X
Exon/Intronexon 49
Mutation Typesubstitution
ReferenceNguyen 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]