Congenital disorder of glycosylation, type ICC
Available tests
18 tests are in the database for this condition.
Clinical tests (18 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Type I transferrin isoform profile
Type I transferrin isoform profile
- MedGen UID: 324900
- Concept ID: C1837899
- Finding: Finding
Abnormality of metabolism/homeostasis
- Type I transferrin isoform profile
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
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