Search Ontology:
Human Disease
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- Term ID
- DOID:0080948
- Synonyms
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- 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
- Ontology
- Human Disease ( DOID:0080948 )
- is a type of
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Genes Involved
Zebrafish Models