agenesis of corpus callosum, cardiac, ocular, and genital syndrome

Term ID

DOID:0080948

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. https://pubmed.ncbi.nlm.nih.gov/31585109/

References

• OMIM:618929

Ontology

Human Disease   ( DOID:0080948 )