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|
Bloating[ more ]
|Feeding difficulties in infancy||0008872|
|Large posterior fontanelle||0004491|
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
Low or weak muscle tone
Prolonged yellowing of skin in newborn
Trouble sleeping[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the hair||
|Angiokeratoma corporis diffusum||0001071|
Excessive, persistent worry and fear
|Coarse facial features||
Coarse facial appearance
|Depressed nasal ridge||
Recessed nasal ridge[ more ]
Decreased activity of gonads
Abnormally low body temperature
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
Fullness of eyelids
Swelling of eyelids[ more ]
|Reduced tendon reflexes||0001315|
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
|Abnormal pericardium morphology||0001697|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
Hearing defect[ more ]
Low blood pressure
Intestinal blockage[ more ]
Cleft of the mouth
Pins and needles feeling
Tingling[ more ]
|Percent of people who have these symptoms is not available through HPO|
Onset in first year of life
Onset in infancy[ 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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
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
If TSH levels are found to be out of range in a new born baby, does this mean that the baby will have permanent or temporary deficiency? See answer