Autosomal recessive spinocerebellar ataxia 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.

Also known as autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN, autosomal recessive spinocerebellar ataxia type 15, RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome, RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome, SCAR15, spinocerebellar ataxia, autosomal recessive type 15 — per MONDO

Also identified as

• DOID 0080057 per MONDO
• OMIM 615705 per MONDO
• Orphanet 404499 per MONDO
• UMLS C3810326 per MONDO