Microcephaly with polymicrogyria and corpus callosum agenesis
OMIM:Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | EOMES |
|---|---|
| DNA Change | balanced translocation between 3p and 10q |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Baala 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