autosomal recessive spinocerebellar ataxia 4

Disease Ontology Term: autosomal recessive spinocerebellar ataxia 4

DO ID: DOID:0111611
Description: An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21.
Synonyms: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, SCA24, SCAR4, SCASI, spinocerebellar ataxia 24, spinocerebellar ataxia with saccadic intrusions

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Annotations

Manually Curated 2 entries for 1 gene

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Gene	Disease Ontology Term	Qualifier	Evidence	Source	Assigned On	Reference
VPS13	autosomal recessive spinocerebellar ataxia 4		ISS with VPS13D	SGD	2021-11-10	Park JS, et al. (2021) PMID:34201352
VPS13	autosomal recessive spinocerebellar ataxia 4		IMP	SGD	2021-11-10	Park JS, et al. (2021) PMID:34201352

Gene

Disease Ontology Term

Qualifier

Evidence

Source

Assigned On

Reference

VPS13

autosomal recessive spinocerebellar ataxia 4

ISS with VPS13D

SGD

2021-11-10