Term Name: corpus callosum agenesis-abnormal genitalia syndrome
Synonyms: ACC with abnormal genitalia, corpus callosum agenesis with abnormal genitalia, microcephaly-corpus callosum agenesis-abnormal genitalia syndrome, Proud syndrome, Proud-Levine-Carpenter syndrome
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.
Ontology: Human Disease [DOID:0112151]   ( DOID:0112151 )

Relationships
is a type of: syndrome X-linked monogenic disease