Orphanet: Autosomal recessive cerebellar ataxia epilepsy intellectual disability syndrome due to RUBCN deficiency

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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Disease definition

An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.

ORPHA:404499

Classification level: Disorder

Synonym(s):
- Autosomal recessive spinocerebellar ataxia type 15
- SCAR15
- Salih ataxia
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy
ICD-10: G11.1
OMIM: 615705
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

ORPHA:404499

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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