Version: 8.0.0
Date: Tue Jan 28 2025
autosomal recessive spinocerebellar ataxia 31
DOID:0070412
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal recessive spinocerebellar ataxia 31

Definition
An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25.
Synonyms
  • SCAR31
Cross References
Parent Terms
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None
Sources of Associations

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      Associated Models

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