has material basis in germline mutation in SETX spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_2_2 GARD:0012860 autosomal recessive spinocerebellar ataxia-1 ataxia-ocular apraxia 2 SCAN 2 See https://github.com/Orphanet/ORDO/issues/11 spinocerebellar ataxia, autosomal recessive 1 SCAR1 ataxia with oculomotor apraxia type 2 UMLS:C1853761 ataxia-oculomotor apraxia 2 OMIM:606002 MESH:C537308 MEDGEN:340052 Orphanet:64753 AOA2 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar ataxia, autosomal recessive type 1 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. SCTID:725408001 SCAN2 DOID:0050755 ataxia-oculomotor apraxia type 2 NCIT:C165500 MONDO:0018996 hereditary peripheral neuropathy spinocerebellar ataxia, autosomal recessive, with axonal neuropathy