Conditions / Genetic
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
info · Genetic
A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13.
Signs and symptoms
- Thick corpus callosum
- Ventriculomegaly
- Intellectual disability
- Absent speech
- Cerebellar hypoplasia
- Hypoplasia of the brainstem
- Generalized hypotonia
- Simplified gyral pattern
- Cerebellar vermis hypoplasia
- Inability to walk
Also known as: MCCCHCM