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X-linked epilepsy - learning disabilities - behavior disorders
1 OMIM reference -
1 associated gene
17 connected diseases
5 signs/symptoms
Disease Type of connection
Young adult-onset Parkinsonism
Romano-Ward syndrome
Autosomal agammaglobulinemia
Autosomal recessive centronuclear myopathy
Chronic granulomatous disease
SHORT syndrome
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Parkinsonian-pyramidal syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
Bloom syndrome
Giant cell glioblastoma
Gliosarcoma
Pulverulent cataract
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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SYN1 P17600313440
Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- X-linked recessive inheritance