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||
|80%-99% of people have these symptoms|
Paralysis or weakness of one side of body
Low or weak muscle tone
|Proximal lower limb amyotrophy||
Wasting of thigh muscle
|Reduced tendon reflexes||0001315|
|30%-79% of people have these symptoms|
|Abnormality of the ribs||
|Abnormality of the voice||
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Stiff joints[ more ]
Swelling caused by excess lymph fluid under skin
High levels of amniotic fluid
|Preauricular skin tag||0000384|
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
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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