MGME1 This gene, previously known as C20orf72, encodes a RecB-type exonuclease belonging to the PD-(D/E)XK nuclease superfamily [ 76 ].
[mdpi.com]
Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family.
[ncbi.nlm.nih.gov]
Mental retardation is a specific clinical feature of SCA 13.
[demneuropsy.com.br]