disease: Spinocerebellar ataxia autosomal recessive 1
| id | 4185 |
|---|---|
| name | Spinocerebellar ataxia autosomal recessive 1 |
| description | Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP). |
| variant-disease |
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) AND Spinocerebellar ataxia autosomal recessive 1 NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) AND Spinocerebellar ataxia autosomal recessive 1 NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) AND Spinocerebellar ataxia autosomal recessive 1 NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) AND Spinocerebellar ataxia autosomal recessive 1 NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) AND Spinocerebellar ataxia autosomal recessive 1 ... 182 more |