Visualize Submit Comment

Metadata
ID	DOID:0080570
Name	congenital disorder of glycosylation It
Definition	A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. https://www.ncbi.nlm.nih.gov/pubmed/24499211
Xrefs	MIM:614921 ORDO:319646
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1t [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I