congenital disorder of glycosylation type IIa (Q60195107)
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A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3.
- carbohydrate-deficient glycoprotein syndrome, type II
- CDG IIa
- CDGS2
- CDGIIa
- mental retardation, growth retardation, prominent columella, and open mouth
- CDG2A
- Alkuraya syndrome
- congenital disorder of glycosylation, type IIa
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital disorder of glycosylation type IIa |
A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3. |
|
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