Term Name: autosomal recessive spinocerebellar ataxia 29
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.
Ontology: Human Disease [DOID:0070410]   ( DOID:0070410 )

Relationships
is a type of: autosomal recessive cerebellar ataxia