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

• OMIM:619422

Ontology

Human Disease   ( DOID:0070412 )