ZFIN Human Disease: nonprogressive cerebellar ataxia with mental retardation

OBO ID: DOID:0050998

Term Name:	nonprogressive cerebellar ataxia with mental retardation		Search Ontology:
Synonyms:
Definition:	An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. https://www.omim.org/entry/614756
References:	OMIM:614756
Ontology:	Human Disease ( DOID:0050998 )

Relationships

is a type of:	autosomal dominant cerebellar ataxia autosomal dominant cerebellar ataxia Show first 5 Terms

OTHER nonprogressive cerebellar ataxia with mental retardation PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CAMTA1	camta1b camta1 camta1a	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	614756

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None