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Medical condition
SRD5A3-CDG (also known as CDG syndrome type Iq, CDG-Iq, CDG1Q or Congenital disorder of glycosylation type 1q) is a rare, non X-linked congenital disorder
SRD5A3-CDG
Medical condition
common finding. Some CDG subtypes, like SSR4-CDG 1y, have been classified as connective tissue disorders. Ocular abnormalities of PMM2-CDG include: myopia
Congenital disorder of glycosylation
Congenital_disorder_of_glycosylation
Protein-coding gene in the species Homo sapiens
signaling. Instead, SRD5A3 reduces polyprenol to dolichol, which is necessary for N-linked glycosylation of proteins and some lipids. SRD5A3-CDG Congenital disorder
SRD5A3
Medical condition
transport function. SRD5A3-CDG PMM2 deficiency "SLC35A1-CDG (CDG-IIf)". RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: SLC35A1 CDG". www.orpha.net
SLC35A1-CDG
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SRD5A3 CDG
SRD5A3 CDG
SRD5A3 CDG
SRD5A3 CDG
SRD5A3 CDG
SRD5A3 CDG
SRD5A3 CDG
SRD5A3 CDG
SRD5A3 CDG
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