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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
6 associated genes
No signs/symptoms info
Severe neonatal-onset encephalopathy with microcephaly
West syndrome

MECP2 ARX
CDKL5
GRIN2B
PIGA
SCN2A
ST3GAL3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MECP2
(0.78)
CDKL5



Citations in the biomedical literature:


Severe neonatal-onset encephalopathy with microcephaly
MECP2
West syndrome
ARX CDKL5 GRIN2B PIGA SCN2A ST3GAL3



Severe neonatal-onset encephalopathy with microcephaly
West syndrome

Synonym(s):
- Severe congenital encephalopathy due to MECP2 mutation

Synonym(s):
- Infantile spasms
- Intellectual deficit - hypsarrhythmia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.