spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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.
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0020771
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
is_a
AOA2
exact
SCAN 2
exact
SCAN2
exact
SCAR1
related
ataxia with oculomotor apraxia type 2
exact
ataxia-ocular apraxia 2
exact
ataxia-oculomotor apraxia 2
exact
ataxia-oculomotor apraxia type 2
exact
autosomal recessive spinocerebellar ataxia-1
related
spinocerebellar ataxia with axonal neuropathy type 2
exact
spinocerebellar ataxia, autosomal recessive 1
exact
spinocerebellar ataxia, autosomal recessive type 1
exact
SPAC6G9.10c SPBC29A10.10c