Disease #03212

Official abbreviation CDG-1O
Name glycosylation, congenital disorder of, type IO (CDG-1O)
OMIM ID 612937
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene DPM3
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00151379 - PubMed: Lefeber 2009 - F no Greece - - 0 - - CDG-1O mild muscle weakness, cardiomyopathy; IQ low normal; CPK 1500-3000 DPM3 DPM3 1 1 Johan den Dunnen
00155313 - - - M - - - - 0 - - CDG-1O - DPM3 DPM3 2 1 Juliette Svahn
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