Term Name: autosomal recessive spinocerebellar ataxia 4
Synonyms: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, SCA24, SCAR4, SCASI, spinocerebellar ataxia 24, spinocerebellar ataxia with saccadic intrusions
Definition: An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21.
Ontology: Human Disease [DOID:0111611]   ( DOID:0111611 )

Relationships
is a type of: autosomal recessive cerebellar ataxia