Orpha Number: 2590
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 | ||
Abnormal |
0012379 | |
Abnormal lower motor neuron morphology | 0002366 | |
Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ]
|
0007340 |
30%-79% of people have these symptoms | ||
Atonic |
0010819 | |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
Clumsiness | 0002312 | |
Difficulty walking |
Difficulty in walking
|
0002355 |
Frequent falls | 0002359 | |
Generalized myoclonic seizure | 0002123 | |
Recurrent aspiration pneumonia | 0002100 | |
Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
Tremor | 0001337 | |
Typical absence seizure | 0011147 | |
5%-29% of people have these symptoms | ||
Bilateral tonic-clonic seizure with generalized onset | 0025190 | |
Eyelid myoclonus | 0025097 | |
High-frequency sensorineural hearing impairment | 0001757 | |
Inability to walk | 0002540 | |
Limb myoclonus | 0045084 | |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
Myoclonic status epilepticus | 0032667 | |
Respiratory failure | 0002878 | |
0002650 | ||
Waddling gait |
'Waddling' gait
Waddling walk
[ more ]
|
0002515 |
1%-4% of people have these symptoms | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
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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