SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/715369006
http://purl.bioontology.org/ontology/SNOMEDCT/715369006
Preferred Name

Autosomal recessive cerebelloparenchymal disorder type 3

Definitions
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. In this disorder cerebellar ataxia is congenital (non-progressive) and characterised 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. In this disorder cerebellar ataxia is congenital (non-progressive) and with characteristics of cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital intellectual disability and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive.
Synonyms
SCAR2 (spinocerebellar ataxia autosomal recessive 2)
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)
Cerebelloparenchymal disorder III
Type http://www.w3.org/2002/07/owl#Class
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