FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term agenesis of corpus callosum, cardiac, ocular, and genital syndrome ID (Ontology) DOID:0080948 (Human Disease)
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.
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 agenesis of corpus callosum, cardiac, ocular, and genital syndrome       1
 for disease ribbon | agenesis of corpus callosum, cardiac, ocular, and genital syndrome       1
 model of | agenesis of corpus callosum, cardiac, ocular, and genital syndrome       1
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       |__agenesis of corpus callosum, cardiac, ocular, and genital syndrome  1 rec.
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MIM:618929