ODCs

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

COMMON GENES: 1

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

Glycogen storage disease due to phosphoglucomutase deficiency

PGM-CDG

PGM1

Citations in the biomedical literature:

Glycogen storage disease due to phosphoglucomutase deficiency		PGM-CDG
	Synonym(s): - GSD due to phosphoglucomutase deficiency - GSD type 14 - GSDXIV - Glycogen storage disease type 14 - Glycogenosis due to phosphoglucomutase deficiency - Glycogenosis type 14 - Phosphoglucomutase 1 deficiency		Synonym(s): - CDGIt

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - 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.