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Congenital disorder of glycosylation type 1w

MedGen UID:
816392
•Concept ID:
C3810062
•
Disease or Syndrome
Synonyms: Congenital disorder of glycosylation type Iw; STT3A-CDG (congenital disorder of glycosylation)
SNOMED CT: STT3A-CDG (congenital disorder of glycosylation) (733111000); Congenital disorder of glycosylation type Iw (733111000); Congenital disorder of glycosylation type 1w (733111000)

Definition

A form of congenital disorders of N-linked glycosylation with characteristics of developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. Caused by mutations in the gene STT3A (11q23.3). [from SNOMEDCT_US]

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