Term Name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Synonyms:
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.
Ontology: Human Disease [DOID:0080948]   ( DOID:0080948 )

Relationships
is a type of: syndrome