OBO ID: DOID:0080948 |
Term Name: | agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0080948 ) |
OTHER agenesis of corpus callosum, cardiac, ocular, and genital syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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