autosomal recessive spinocerebellar ataxia 15

Rare Disease

MONDO:0014311

Also Known As

RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndromeRUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndromeSCAR15autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCNautosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCNautosomal recessive spinocerebellar ataxia type 15spinocerebellar ataxia, autosomal recessive type 15Salih ataxiaautosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiencyautosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyspinocerebellar ataxia, autosomal recessive 15

Definition

Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.