Orpha Number: 1436
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 sacrum||0005107|
|Fused cervical vertebrae||
|Short middle phalanx of finger||
Short middle bone of finger
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
Type 2 diabetes
Type II diabetes[ more ]
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Cranial nerve VI palsy||0006897|
Impaired glucose tolerance
Mental retardation, nonspecific
Mental-retardation[ more ]
|Prominent metopic ridge||0005487|
|Wide nasal bridge||
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge[ more ]
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.
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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