ZFIN Human Disease: NESCAV syndrome

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 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:	NCI:C133742 OMIM:614255 UMLS_CUI:C3280283
Ontology:	Human Disease ( DOID:0070039 )

Relationships

is a type of:	autosomal dominant intellectual developmental disorder autosomal dominant intellectual developmental disorder Show first 5 Terms

OTHER NESCAV syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KIF1A	kif1aa kif1ab	NESCAV syndrome	614255

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None