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Congenital muscular dystrophy with intellectual disability and severe epilepsy
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
DPM1-CDG
DPM3-CDG
Hereditary combined deficiency of vitamin K-dependent clotting factors
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Paroxysmal nocturnal hemoglobinuria
West syndrome
Synonym(s):
- CDG syndrome type Iu
- CDG-Iu
- CDG1U
- CMD with intellectual disability and severe epilepsy
- Carbohydrate deficient glycoprotein syndrome type Iu
- Congenital disorder of glycosylation type Iu
- DPM2-CDG
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DPM2 O94777603564
No signs/symptoms info available.