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Congenital myasthenic syndromes with glycosylation defect

2 OMIM references -
4 associated genes
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Congenital myasthenic syndromes with glycosylation defect

ALG2-CDG

ALG14	(UniProt - OMIM)		ALG2	(UniProt - OMIM)
ALG2	(UniProt - OMIM)
DPAGT1	(UniProt - OMIM)
GFPT1	(UniProt - OMIM)


COMMON GENES	ALG2

Citations in the biomedical literature:

Congenital myasthenic syndromes with glycosylation defect		ALG2-CDG
	Synonym(s): (no synonyms)		Synonym(s): - CDG syndrome type Ii - CDG-Ii - CDG1I - Carbohydrate deficient glycoprotein syndrome Ii - Congenital disorder of glycosylation 1i - Congenital disorder of glycosylation Ii - Mannosyltransferase 2 deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

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

ALG2-CDG
	Very frequent - Cataract / lens opacification - Coloboma of iris - Intellectual deficit / mental / psychomotor retardation / learning disability - Nystagmus - Seizures / epilepsy / absences / spasms / status epilepticus
Congenital myasthenic syndromes with glycosylation defect
(no data available)