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|
|Failure to thrive||
Weight faltering[ more ]
High blood sugar
Depleted blood volume
|Reduced pancreatic beta
|30%-79% of people have these symptoms|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart[ more ]
|Arthrogryposis multiplex congenita||0002804|
Drooping of both upper eyelids
|Downturned corners of mouth||
Downturned corners of the mouth
Downturned mouth[ more ]
|Generalized tonic-clonic seizures||
Grand mal seizures
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
High urine albumin levels
|Prominent metopic ridge||0005487|
Noninflammatory retina disease
|5%-29% of people have these symptoms|
Hearing defect[ more ]
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
|Peripheral axonal neuropathy||0003477|
|Renal tubular dysfunction||0000124|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the ear||0000598|
|Abnormality of the
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Limb joint contracture||
|Muscular hypotonia of the trunk||
Low muscle tone in trunk
Drooping upper eyelid
|Radial deviation of finger||0009466|
|Small for gestational age||
Birth weight less than 10th percentile
Low birth weight[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
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