Term Name: | corpus callosum agenesis-abnormal genitalia syndrome |
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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 ) |