spinocerebellar ataxia autosomal recessive type 5

spinocerebellar ataxia autosomal recessive type 5

A form of spinocerebellar ataxia (OMIM:606937) characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar atrophy. 
Molecular pathology
Caused by defects in ZNF592, which encodes a transcription regulator involved in cerebellar development.