ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Congenital muscular dystrophy with intellectual disability and severe epilepsy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIGA	(0.52)	DPM2

Citations in the biomedical literature:

Multiple congenital anomalies-hypotonia-seizures syndrome type 2		Congenital muscular dystrophy with intellectual disability and severe epilepsy
	Synonym(s): - MCAHS type 2		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 developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: before age 5 Type of inheritance: x-linked recessive		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		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.