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.
Definition:A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.