Synonym(s): - CDG syndrome type Ib - CDG-Ib - CDG1B - Carbohydrate deficient glycoprotein syndrome type Ib - Congenital disorder of glycosylation type 1b - Congenital disorder of glycosylation type Ib - Phosphomannose isomerase deficiency
Classification (Orphanet): - Inborn errors of metabolism - Rare circulatory system disease - Rare gastroenterologic disease - Rare genetic disease - Rare hepatic disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
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 - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
MPI	P34949	154550

- Congenital hepatic fibrosis
- Hepatocellular liver disease / hepatic failure
- Malabsorption / chronic diarrhea / steatorrhea

- Hypoglycemia
- Lymphedema