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Spinocerebellar Ataxia Type 13 (MONDO:0011529)

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0011529

Internal:12627

Synonyms

SCA13

spinocerebellar ataxia type 13

autosomal dominant cerebellar ataxia with intellectual disability

autosomal dominant cerebellar ataxia with mental retardation

cerebellar ataxia, autosomal dominant with intellectual disability

cerebellar ataxia, autosomal dominant with mental retardation

spinocerebellar ataxia 13

Mapped terms

DOID:0050963

GARD:0009611

MEDGEN:344297

MESH:C537195

OMIM:605259

Orphanet:98768

SCTID:719209002

UMLS:C1854488

icd11.foundation:1191033828

Child terms

Unknown children.

Results

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