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 |
---|---|---|
30%-79% of people have these symptoms | ||
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
Motor delay | 0001270 | |
Reduced tendon reflexes | 0001315 | |
5%-29% of people have these symptoms | ||
Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
Central hypoventilation | 0007110 | |
Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
Difficulty running | 0009046 | |
Easy fatigability | 0003388 | |
Facial palsy |
Bell's palsy
|
0010628 |
Fatiguable weakness of proximal limb muscles | 0030200 | |
Frequent falls | 0002359 | |
Generalized amyotrophy |
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ]
|
0003700 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Gowers sign | 0003391 | |
Increased variability in muscle fiber diameter | 0003557 | |
Lower limb amyotrophy | 0007210 | |
Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ]
|
0007340 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Mitral valve prolapse | 0001634 | |
Nasal speech |
Nasal voice
|
0001611 |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Pes valgus | 0008081 | |
Poor head control | 0002421 | |
Reduced systolic function | 0006673 | |
Sinus tachycardia | 0011703 | |
Thoracic |
0002943 | |
Toe walking |
Toe-walking
|
0040083 |
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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