| Metadata | |
|---|---|
| ID | DOID:0080948 |
| Name | agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
| Definition | A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/31585109/ |
| Xrefs | |
| Parent Relationships |
is_a syndrome |