OBO ID: DOID:0070039
Term Name: NESCAV syndrome Search Ontology:
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 non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3. https://www.ncbi.nlm.nih.gov/pubmed/21376300
References:
Ontology: Human Disease   (DOID:0070039)
OTHER NESCAV syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF1A NESCAV syndrome 614255
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None