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 macular morphology | 0001103 | |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Dysostosis multiplex | 0000943 | |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hydrops fetalis | 0001789 | |
Inguinal hernia | 0000023 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Nephropathy | 0000112 | |
Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
|
0010741 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Splenomegaly |
Increased spleen size
|
0001744 |
Umbilical hernia | 0001537 | |
30%-79% of people have these symptoms | ||
0001251 | ||
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
0000939 | ||
Pectus carinatum |
Pigeon chest
|
0000768 |
0001250 | ||
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Abnormality of bone marrow |
0005561 | |
Dysphonia |
Inability to produce voice sounds
|
0001618 |
Dyspnea |
Trouble breathing
|
0002094 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Muscle weakness |
Muscular weakness
|
0001324 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Bone-marrow foam cells | 0004333 | |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
Disease of the heart muscle
|
0001638 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cherry red spot of the macula | 0010729 | |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Epiphyseal stippling |
Speckled calcifications in end part of bone
|
0010655 |
Facial edema |
Facial puffiness
Facial swelling
[ more ]
|
0000282 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Increased urinary O-linked sialopeptides | 0003461 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Myoclonus | 0001336 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
Sensorineural hearing impairment | 0000407 | |
Slurred speech | 0001350 | |
Urinary excretion of sialylated oligosaccharides | 0012061 | |
Vacuolated |
0001922 |
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.
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 galactosialidosis (characterized by deficiencies in both beta galactosidase and neuraminidase) and mucopolysaccharidosis type 1, 2 or 6 (see these terms). Many patients of the juvenile sub-group, in particular, may appear to have a form of galactosialidosis.
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.
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.
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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.