Term Name: autosomal recessive spinocerebellar ataxia 20
Synonyms: SCAR20
Definition: An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.
Ontology: Human Disease [DOID:0080066]   ( DOID:0080066 )

Relationships
is a type of: autosomal recessive cerebellar ataxia