Orpha Number: 70
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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
EMG abnormality | 0003457 | |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Muscular |
Low or weak muscle tone
|
0001252 |
Proximal lower limb amyotrophy |
Wasting of thigh muscle
|
0008956 |
Reduced tendon reflexes | 0001315 | |
30%-79% of people have these symptoms | ||
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Abnormality of the voice |
Voice abnormality
|
0001608 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Preauricular skin tag | 0000384 | |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
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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