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West syndrome
2 OMIM references -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Macrodactyly of fingers, unilateral
1 associated gene
No signs/symptoms info
West syndrome
Macrodactyly of fingers, unilateral

ARX
(UniProt - OMIM)
 PIK3CA
(UniProt - OMIM)
CDKL5
(UniProt - OMIM)
GRIN2B
(UniProt - OMIM)
PIGA
(UniProt - OMIM)
SCN2A
(UniProt - OMIM)
ST3GAL3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GRIN2B
(0.62)
PIK3CA


Citations in the biomedical literature:


West syndrome
ARX CDKL5 GRIN2B PIGA SCN2A ST3GAL3

Macrodactyly of fingers, unilateral
PIK3CA



West syndrome
Macrodactyly of fingers, unilateral

Synonym(s):
- Infantile spasms
- Intellectual deficit - hypsarrhythmia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.