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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| 0001251 | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Choreoathetosis | 0001266 | |
| 0001332 | ||
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
| Renal tubular acidosis |
Accumulation of acid in body due to kidney problem
|
0001947 |
|
Abnormal curving of the spine
|
0002650 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Concave nasal ridge |
Boxer's nasal deformity
Boxer's nose deformity
Saddle nose
Ski jump nose
[ more ]
|
0011120 |
| Delayed myelination | 0012448 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| 0001298 | ||
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ]
|
0003348 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypospadias | 0000047 | |
| Increased serum lactate | 0002151 | |
| Lactic acidosis |
Increased lactate in body
|
0003128 |
| Leukodystrophy | 0002415 | |
| Mitochondrial respiratory chain defects | 0200125 | |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
|
Seizure
|
0001250 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
