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agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Summary
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0080948
- Mondo Disease Ontology
- OMIM
Related Genes
