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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Paroxysmal nocturnal hemoglobinuria

PIGA PIGA


COMMON
GENES
PIGA



Citations in the biomedical literature:


Multiple congenital anomalies-hypotonia-seizures syndrome type 2
PIGA
Paroxysmal nocturnal hemoglobinuria



Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Paroxysmal nocturnal hemoglobinuria

Synonym(s):
- MCAHS type 2

Synonym(s):
- Marchiafava-Micheli disease
- PNH

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D006457

No signs/symptoms info available.