X-linked spasticity-intellectual disability-epilepsy syndrome

Orpha code: 3175OMIM code: 308350

Definition

A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.

Disease data
Classification

Disease

ORPHA code
3175
OMIM code
308350
ICD10 code
G25.3
ICD11 code
-

No additional description.

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