Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Synonyms: Autosomal recessive spinocerebellar ataxia type 15 | SCAR15 | Salih ataxia
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency?
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