Search Ontology:
Human Disease
Dursun-Ozgul neurodevelopmental syndrome
- Term ID
- DOID:0070792
- Synonyms
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- DONDS
- Definition
- An autosomal recessive intellectual developmental disorder characterized by varying degrees of developmental disability, epilepsy, and movement disorders that has_material_basis_in homozygous mutation in the ELFN1 gene on chromosome 7p22. https://pubmed.ncbi.nlm.nih.gov/40576023/
- References
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- MIM:621344
- UMLS_CUI:C6065959
- Ontology
- Human Disease ( DOID:0070792 )
Other Pages
Genes Involved
Zebrafish Models