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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia, autosomal recessive 31

Spinocerebellar ataxia, autosomal recessive 31

Summary

Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by Collier et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APG7-LIKE, APG7L, GSA7, SCAR31, ATG7
    Summary: autophagy related 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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