Carbohydrate deficient glycoprotein syndrome type 2a (disorder) | | Carbohydrate deficient glycoprotein syndrome type 2a | | Congenital disorder of glycosylation type IIa MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation Congenital disorder of glycosylation type 2a Carbohydrate deficient glycoprotein syndrome type IIa
| | A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). | | congenitaal defect in glycosylering type IIa | | CDG-syndroom type IIa
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| Id | 724142005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | E77.8 | Rule | TRUE | Advice | ALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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