Disease #00099 (CDG-1a (Congenital Disorder of Glycosylation type 1a), OMIM:212065)

Official abbreviation CDG-1a
Name Congenital Disorder of Glycosylation type 1a
OMIM ID 212065
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PMM2
Associated tissues -
Disease features -
Remarks -


Individuals

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00000556 M K Thong et al.(2009) F Malaysia Malay - - - CDG-1a She has bilateral inverted nipples, abnormal fat distribution over her thighs, buttocks and suprapubic regions, a flat nasal bridge and prominent nares PMM2 PMM2 2 1 Nur Aisyah Athirah
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