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OMIM ID
212066
OMIM term:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
Alternative terms:
CDG IIa; CDGIIa
ALKURAYA SYNDROME
MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY
(∗) Location:
14q21.3
(†) Associated OMIM genes:
MGAT2
(‡) Associated MGI genes:
Mgat2
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Zebrafish
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