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Features include always present findings: Hepatic steatosis, Decreased circulating ceruloplasmin concentration, Elevated circulating aspartate aminotransferase concentration, and Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and others; and very common findings: Hypercholesterolemia and Increased LDL cholesterol concentration. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 7 |
VMA12 function has not been fully characterized.
TMEM199-CDG is associated with mutations in the VMA12 gene on chromosome 17.
Genetic testing for VMA12 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 11 always present features, 2 very common features, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:06 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about TMEM199-CDG
Lab test results | 6 | Elevated circulating aspartate aminotransferase concentration, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating alkaline phosphatase concentration |
Brain and nerves | 1 | Global developmental delay |
Muscles | 1 | Low muscle tone (hypotonia) |