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COG5-CDG
COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
ORPHA:263487
Classification level: Disorder
- CDG syndrome type IIi
- CDG-IIi
- CDG2I
- Carbohydrate deficient glycoprotein syndrome type IIi
- Congenital disorder of glycosylation type 2i
- Congenital disorder of glycosylation type IIi
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
UMLS: C3150876
GARD: 12348
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: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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