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


Engelsk navn: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Engelske synonym: Autosomal recessive spinocerebellar ataxia type 15,SCAR15,Salih ataxia


Definisjon

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.

Fra Orphanet

ORPHA: 404499
Klassifiseringsnivå: Disorder
ICD-10: G11.1

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Mer informasjon

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