Orpha Number: 1861
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|
Short limbs[ more ]
Low chest circumference
Narrow shoulders[ more ]
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Conductive hearing impairment||
Conductive hearing loss[ more ]
|Depressed nasal ridge||
Recessed nasal ridge[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Low or weak muscle tone
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.
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