Search Ontology:
Human Disease
neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
- Term ID
- DOID:0070714
- Synonyms
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- NEDBAC
- Definition
- A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/40930097/
- References
- Ontology
- Human Disease ( DOID:0070714 )
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Genes Involved
Zebrafish Models