autosomal recessive spinocerebellar ataxia 29

Term ID

DOID:0070410

Synonyms

• SCAR29

Definition

An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. https://pubmed.ncbi.nlm.nih.gov/33764426/

References

• OMIM:619389

Ontology

Human Disease   ( DOID:0070410 )