| Metadata | |
|---|---|
| ID | DOID:0112151 |
| Name | corpus callosum agenesis-abnormal genitalia 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. https://pubmed.ncbi.nlm.nih.gov/14722918/, https://pubmed.ncbi.nlm.nih.gov/1605226/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ACC with abnormal genitalia [EXACT] corpus callosum agenesis with abnormal genitalia [EXACT] microcephaly-corpus callosum agenesis-abnormal genitalia syndrome [EXACT] Proud syndrome [EXACT] Proud-Levine-Carpenter syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |