Search Ontology:
Human Disease

neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Term ID
DOID:0070513
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models