Mendelian Diseases
Multifactorial Diseases
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

EOMES

Gene name: eomesodermin
OMIM ID: 604615
Chromosome location: 3p24.1

Mutations

Disease/PhenotypeMicrocephaly with polymicrogyria and corpus callosum agenesis
DNA Changebalanced translocation between 3p and 10q
A.A. Change
Exon/Intron
Mutation Typedeletion
ReferenceBaala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Atti?-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S.Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nat Genet. 2007 Apr;39(4):454-6.

  Variant not named according to HGVS recommendations