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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia, autosomal recessive 28

Spinocerebellar ataxia, autosomal recessive 28

Summary

Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria. Affected individuals may have features of spasticity and may show mildly impaired cognitive function. Brain imaging shows cerebellar vermis hypoplasia (summary by Walker et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ICF45, IHG-1, IHG1, SCAR28, THG1, hTHG1, THG1L
    Summary: tRNA-histidine guanylyltransferase 1 like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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