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