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Human Disease

Dursun-Ozgul neurodevelopmental syndrome

Term ID
DOID:0070792
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0070792 )
Relationships
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Genes Involved
Zebrafish Models