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Spasticity - intellectual deficit - X-linked epilepsy
1 OMIM reference -
1 associated gene
7 connected diseases
4 signs/symptoms
Disease Type of connection
Early infantile epileptic encephalopathy
Infantile epileptic-dyskinetic encephalopathy
Micrencephaly - corpus callosum agenesis - abnormal genitalia
Partington syndrome
West syndrome
X-linked lissencephaly with abnormal genitalia
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ARX Q96QS3300382
Very frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus