Search Ontology:
Human Disease

NESCAV syndrome

Term ID
DOID:0070039
Synonyms
  • autosomal dominant intellectual disability 9
  • autosomal dominant mental retardation 9
  • autosomal dominant non-syndromic intellectual disability 9
  • MRD9
  • NESCAVS
  • neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. https://www.ncbi.nlm.nih.gov/pubmed/21376300
References
Ontology
Human Disease   ( DOID:0070039 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models