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Human Disease

autosomal recessive spinocerebellar ataxia 31

Term ID
DOID:0070412
Synonyms
  • SCAR31
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. https://pubmed.ncbi.nlm.nih.gov/34161705/
References
Ontology
Human Disease   ( DOID:0070412 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models