Version: 8.0.0
Date: Tue Jan 28 2025
autosomal recessive spinocerebellar ataxia 28
DOID:0070409
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal recessive spinocerebellar ataxia 28

Definition
An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33.
Synonyms
  • SCAR28
Cross References
Parent Terms
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None
Sources of Associations

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