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Multiple congenital anomalies-hypotonia-seizures syndrome type 2
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Paroxysmal nocturnal hemoglobinuria
West syndrome
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Synonym(s):
- MCAHS type 2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PIGA P37287311770
No signs/symptoms info available.