ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 23

OBO ID: DOID:0111613

Term Name:	autosomal recessive spinocerebellar ataxia 23		Search Ontology:
Synonyms:	autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency SCAR23
Definition:	An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. https://www.ncbi.nlm.nih.gov/pubmed/24658003
References:	OMIM:616949 ORDO:404493
Ontology:	Human Disease ( DOID:0111613 )

Relationships

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

OTHER autosomal recessive spinocerebellar ataxia 23 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TDP2	tdp2b tdp2a	Spinocerebellar ataxia, autosomal recessive 23	616949

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None