Phenotype Library | Search Phenotypes

Spinocerebellar Ataxia Type 2 (MONDO:0008458)

A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0008458

Internal:9750

Synonyms

ATXN2 autosomal dominant cerebellar ataxia type I

OPCA2

SCA2

autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2

spinocerebellar ataxia type 2

ALS13

SCA 2

Wadia swami syndrome

Wadia-swami syndrome

amyotrophic lateral sclerosis 13

amyotrophic lateral sclerosis type 13

amyotrophic lateral sclerosis, susceptibility to, 13

cerebellar Degeneration with slow eye movements

olivopontocerebellar atrophy 2

olivopontocerebellar atrophy Holguin type

olivopontocerebellar atrophy, Holguin type

spinocerebellar Degeneration with slow eye movements

spinocerebellar ataxia 2

spinocerebellar ataxia Cuban type

spinocerebellar ataxia with slow eye movements

spinocerebellar ataxia, Cuban type

spinocerebellar atrophy 2

Mapped terms

DOID:0050955

DOID:0060204

GARD:0004072

MEDGEN:155704

NANDO:1200046

NCIT:C148315

OMIM:183090

Orphanet:98756

SCTID:715751004

UMLS:C0752121

icd11.foundation:1232187870

Child terms

MONDO:0010065

Results

Cookie consent