The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of adipose tissue||90%|
|Abnormality of coagulation||90%|
|Abnormality of immune system physiology||90%|
|Abnormality of retinal pigmentation||90%|
|Aplasia/Hypoplasia of the cerebellum||90%|
|Aplasia/Hypoplasia of the nipples||90%|
|Cerebral cortical atrophy||90%|
|Elevated hepatic transaminases||90%|
|Abnormality of the genital system||50%|
|Abnormality of the pericardium||50%|
|Abnormality of the intestine||7.5%|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Congenital disorders of glycosylation. If you have a question about any of these diseases, you can contact GARD.
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What are the symptoms and prognosis for individuals with CDG Ix? We are pending tests results from an institute in Belgium to obtain a more specific diagnosis for my 13-month-old son. He has had a liver transplant at 6 months due to liver failure, coagulopathy, ascites, protein losing enteropathy (?), failure to thrive, and hypoglycemia. CT and MRI do not show any brain abnormalities. He does not yet crawl or stand on his own, possibly because he was hospitalized for four months. I am worried about his developmental delay. He does have minimal delay in speech. See answer