AFG3L2 and Aniridia - cerebellar ataxia - intellectual disability: In fact, genes linked to autosomal-dominant ataxia have also recently been found to cause autosomal-recessive ataxia in cases of biallelic inheritance (e.g., AFG3L2/SPAX5 [104], SPTBN2/SPARCA1 [105], ITPR1/Gillespie Syndrome [106], and OPA1/Syndromic DOA or Behr phenotype [107,108]).