An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

Synonyms: SCA7 Cerebellar syndrome-pigmentary maculopathy syndrome Ataxia with pigmentary retinopathy

This is just here as a test because I lose it

Term information

database cross reference
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147

hasDbXref

ICD-10:G11.8

UMLS:C0752125

OMIM:164500

has age of onset

http://www.orpha.net/ORDO/Orphanet_409949

http://www.orpha.net/ORDO/Orphanet_409948

http://www.orpha.net/ORDO/Orphanet_409947

http://www.orpha.net/ORDO/Orphanet_409946

http://www.orpha.net/ORDO/Orphanet_409945

has inheritance

http://www.orpha.net/ORDO/Orphanet_409929

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409976

notation

ORPHA:94147

part of

http://www.orpha.net/ORDO/Orphanet_208508

http://www.orpha.net/ORDO/Orphanet_98687

present in

http://www.orpha.net/ORDO/Orphanet_409991

Term relations