agenesis of corpus callosum, cardiac, ocular, and genital syndrome (DOID:0080948)
Alliance: disease page
Alt IDs: OMIM:618929
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.