autosomal recessive spinocerebellar ataxia 29 Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive spinocerebellar ataxia 29 (DOID:0070410)
Alliance: disease page
Synonyms: SCAR29
Alt IDs: OMIM:619389
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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