corpus callosum agenesis-abnormal genitalia syndrome (DOID:0112151)
Alliance: disease page
Synonyms: ACC with abnormal genitalia; corpus callosum agenesis with abnormal genitalia; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; Proud syndrome; Proud-Levine-Carpenter syndrome
Alt IDs: OMIM:300004, ORDO:2508
Definition: 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.