OBO ID: DOID:0080948
Term Name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080948 )
Relationships
is a type of:
OTHER agenesis of corpus callosum, cardiac, ocular, and genital syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDH2 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 618929
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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