Metadata | |
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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 |