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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

MIM:618929

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is_a syndrome

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