Orpha Number: 3010
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||
|Percent of people who have these symptoms is not available through HPO|
Bloating[ more ]
|Abnormal palmar dermatoglyphics||0001018|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
Infrequent bowel movements
Undescended testis[ more ]
|Dysharmonic delayed bone age||0005832|
Increased palatal height[ more ]
Widely spaced eyes[ more ]
Narrow roof of mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance[ more ]
|Prominent nasal bridge||
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge[ more ]
|Severe global developmental delay||0011344|
Tapering fingers[ more ]
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
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