This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of the pancreatic islet
|Failure to thrive||
Weight faltering[ more ]
Depleted blood volume
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
|30%-79% of people have these symptoms|
|Arthrogryposis multiplex congenita||0002804|
Drooping of both upper eyelids
|Downturned corners of mouth||
Downturned corners of the mouth
Downturned mouth[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Prominent metopic ridge||0005487|
|5%-29% of people have these symptoms|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart[ more ]
|Generalized tonic-clonic seizures||
Grand mal seizures
Hearing defect[ more ]
|Renal tubular dysfunction||0000124|
|1%-4% of people have these symptoms|
Type 2 diabetes
Type II diabetes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Elevated hemoglobin A1c||0040217|
High blood sugar
|Severe failure to thrive||
Severe faltering weight
Severe weight faltering[ more ]
|Transient neonatal diabetes mellitus||0008255|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My son was diagnosed with neonatal diabetes mellitus. He is 15 days old and we are not sure if this is permanent or transient. I want to know what the lifespan is of babies with this illness. Also how can we find out if this diabetes is transient or permanent? See answer