Disease #04228

Official abbreviation CDG-1
Name glycosylation, congenital disorder of, type I (CDG-1)
OMIM ID -
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 1
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00046772 - PubMed: Losfeld 2014, Journal: Losfeld 2014 2-generation family, 1 affected M no United States - >16y 0 - - CDG-1 see paper; at birth:microcephaly, dysmorphic features (excess skin around tneck and micrognathia), displayed increased fat pads, mild hypospadias, clinodactyly 4th/5th toes bilaterally, ... SSR4 SSR4 1 1 Bobby Ng
00046788 - - - M - - Asian - 0 - - CDG-1 - - SSR4 1 1 Bobby Ng
00046792 - - - M - Brazil - - 0 - - CDG-1 - - SSR4 1 1 Bobby Ng
00046793 - - - M - United States - - 0 - - CDG-1 - - SSR4 1 1 Bobby Ng
00046794 - - - M - United States - - 0 - - CDG-1 - - SSR4 1 1 Bobby Ng
00046795 - - - M - United States - - 0 - - CDG-1 - - SSR4 1 1 Bobby Ng
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