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2 OMIM references -
6 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
West syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ARX PIGA
CDKL5
GRIN2B
PIGA
SCN2A
ST3GAL3


COMMON
GENES
PIGA



Citations in the biomedical literature:


West syndrome
ARX CDKL5 GRIN2B PIGA SCN2A ST3GAL3

Multiple congenital anomalies-hypotonia-seizures syndrome type 2



West syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2

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

Synonym(s):
- MCAHS type 2

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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:
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

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

No signs/symptoms info available.