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 | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Atrioventricular block |
Interruption of electrical communication between upper and lower chambers of heart
|
0001678 |
| Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
| EMG abnormality | 0003457 | |
| External ophthalmoplegia |
Paralysis or weakness of muscles within or surrounding outer part of eye
|
0000544 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Head tremor | 0002346 | |
| Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
|
0000298 |
| Muscular |
Low or weak muscle tone
|
0001252 |
|
Drooping upper eyelid
|
0000508 | |
| Respiratory failure requiring assisted ventilation | 0004887 | |
| 0002650 | ||
| 0001250 | ||
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Percent of people who have these symptoms is not available through HPO | ||
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Birth length greater than 97th percentile | 0003517 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Decreased liver function |
Liver dysfunction
|
0001410 |
| Diaphragmatic eventration | 0009110 | |
| Facial palsy |
Bell's palsy
|
0010628 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized muscle weakness | 0003324 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ]
|
0002375 |
| 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 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Neck muscle weakness |
Floppy neck
|
0000467 |
| Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ]
|
0002643 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Pyloric stenosis | 0002021 | |
| Respiratory failure | 0002878 | |
| Severe muscular hypotonia |
Severely decreased muscle tone
|
0006829 |
| Slender toe |
Narrow toe
|
0011308 |
| 0001419 | ||
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The main differential diagnoses include congenital myotonic dystrophy and other conditions characterized by severe neonatal hypotonia (see these terms).
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
