Orpha Number: 1877
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|
|Abnormal palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Increased size of skull
Large head circumference[ more ]
Low or weak muscle tone
Decreased breadth of face
Decreased width of face[ more ]
|Reduced tendon reflexes||0001315|
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|30%-79% of people have these symptoms|
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.
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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