Human genes for congenital disorder of glycosylation Ib
Congenital disorder of glycosylation Ib [DOID:0080554]
A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.
Synonyms: congenital disorder of glycosylation Ib, congenital disorder of glycosylation Ibs, DOID:0080554, congenital disorder of glycosylation 1b