Search Ontology:
Human Disease
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
- Term ID
- DOID:0070513
- Synonyms
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- NEDFBA
- Definition
- An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/37071997/
- References
- Ontology
- Human Disease ( DOID:0070513 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models