|||||
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)
Autosomal recessive cerebelloparenchymal disorder type 3
SCAR2 (spinocerebellar ataxia autosomal recessive 2)
Cerebelloparenchymal disorder III
In this disorder cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive.
autosomaal recessieve cerebelloparenchymale stoornis type 3
autosomaal recessieve spinocerebellaire ataxie type 2
Id715369006
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Clinical courseNon-progressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.0
RuleTRUE
AdviceALWAYS G11.0
CorrelationSNOMED CT source code to target map code correlation not specified