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Human Disease

congenital disorder of glycosylation It

Term ID
DOID:0080570
Synonyms
  • congenital disorder of glycosylation 1t
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
References
Ontology
Human Disease   ( DOID:0080570 )
Relationships
is a type of
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Genes Involved
Zebrafish Models