Orpha Number: 79333
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 | ||
| Abnormality of |
0010978 | |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| 1%-4% of people have these symptoms | ||
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
| Adducted thumb |
Inward turned thumb
|
0001181 |
| 0000007 | ||
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Decreased liver function |
Liver dysfunction
|
0001410 |
| Delayed myelination | 0012448 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Flat forehead |
Flattened forehead
|
0004425 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hydronephrosis | 0000126 | |
| Hypertrichosis | 0000998 | |
|
Low blood sugar
|
0001943 | |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Inverted nipples | 0003186 | |
|
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Narrow mouth |
Small mouth
|
0000160 |
| Neurogenic bladder |
Lack of bladder control due to nervous system injury
|
0000011 |
| Overlapping fingers | 0010557 | |
| Profound global |
0012736 | |
| Progressive |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ]
|
0000253 |
| Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ]
|
0010808 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Smooth philtrum | 0000319 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
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.
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.
