autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 15
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn (run and cysteine rich domain containing beclin 1 interacting protein) deficiency