Orpha Number: 3312
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||
|30%-79% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
|Abnormality of fibula morphology||
Abnormality of the calf bone
|Aplasia/hypoplasia of the femur||
Absent/underdeveloped thighbone[ more ]
|Aplasia/hypoplasia of the humerus||
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm[ more ]
|Aplasia/Hypoplasia of the thumb||
Absent/underdeveloped thumb[ more ]
|Aplasia/Hypoplasia of the ulna||
Absence/underdevelopment of inner forearm bone
|Radial club hand||0004059|
Decreased body height
Small stature[ more ]
Claw hand deformities
Split-hand[ more ]
|Upper limb phocomelia||0009813|
|5%-29% of people have these symptoms|
Hearing defect[ more ]
Body fails to respond to insulin
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