corpus callosum agenesis-abnormal genitalia syndrome

A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chrom

A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.

Signs and symptoms

• Agenesis of corpus callosum
• Broad alveolar ridges
• Strabismus
• Hyperconvex nail
• Short stature
• Seizure
• Coarse facial features
• Abnormally large globe
• Severe intellectual disability
• Nystagmus

Also known as: ACC with abnormal genitalia; Proud syndrome; Proud-Levine-Carpenter syndrome; corpus callosum agenesis with abnormal genitalia; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome