Clinical and research tests for 212065 - Genetic Testing Registry (GTR)

Human tests (109)
Conditions (1)
Genes (1)

Results: 1 to 1 of 1

Select all conditions on this page	Conditions	Synonyms
Select item 138111	PMM2-congenital disorder of glycosylation	CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia CDG 1A CDG Ia Carbohydrate-deficient glycoprotein syndrome type 1A Carbohydrate-deficient glycoprotein syndrome type 1A (formerly) Congenital disorder of glycosylation type 1A Congenital disorder of glycosylation, type Ia Jaeken syndrome PMM2-CDG PMM2-CDG (CDG-Ia) Phosphomannomutase 2 deficiency

Results: 1 to 1 of 1

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