C206097Level 8
Congenital Disorder of Glycosylation Type Ih
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive congenital disorder of glycosylation subtype caused by mutation(s) in the ALG8 gene, encoding probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase.
**Synonyms:** - ALG8-CDG - CDGIh
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