FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive spinocerebellar ataxia 29 ID (Ontology) DOID:0070410 (Human Disease)
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.
Also Known As "SCAR29"
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 Genes
 autosomal recessive spinocerebellar ataxia 29       1
 for disease ribbon | autosomal recessive spinocerebellar ataxia 29       1
 model of | autosomal recessive spinocerebellar ataxia 29       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
cerebellar ataxia____________|
                             autosomal recessive cerebellar ataxia
                              |__autosomal recessive spinocerebellar ataxia 29  1 rec.
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Is a autosomal recessive cerebellar ataxia
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Synonyms
  • "SCAR29" EXACT OMO:0003012
Secondary IDs
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MIM:619389