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GTR Home > Conditions/Phenotypes > Autosomal recessive spinocerebellar ataxia 2

Autosomal recessive spinocerebellar ataxia 2

Synonyms
CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL; CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE; CEREBELLOPARENCHYMAL DISORDER III; CPD III
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive spinocerebellar ataxia-2 (SCAR2) is a neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood (summary by Jobling et al., 2015). [from OMIM]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2, PMPCA
    Summary: peptidase, mitochondrial processing subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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