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 | ||
Aminoaciduria |
High urine amino acid levels
Increased levels of animo acids in urine
[ more ]
|
0003355 |
0001251 | ||
Cherry red spot of the macula | 0010729 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Dysostosis multiplex | 0000943 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Hyperkeratosis | 0000962 | |
Increased urinary O-linked sialopeptides | 0003461 | |
Myoclonus | 0001336 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
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 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
0002650 | ||
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Skeletal dysplasia | 0002652 | |
Slurred speech | 0001350 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
Urinary excretion of sialylated oligosaccharides | 0012061 | |
Vascular skin abnormality | 0011276 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
30%-79% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Decreased nerve conduction velocity | 0000762 | |
0002353 | ||
Frontal bossing | 0002007 | |
Hernia | 0100790 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular |
Low or weak muscle tone
|
0001252 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Percent of people who have these symptoms is not available through HPO | ||
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
0000007 | ||
Bone-marrow foam |
0004333 | |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
Disease of the heart muscle
|
0001638 | |
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 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hydrops fetalis | 0001789 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Inguinal hernia | 0000023 | |
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
Vacuolated |
0001922 |
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 diagnosis is galactosialidosis (see this term), which is characterized by deficiencies in both neuraminidase and beta-galactosidase.
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. Submit a new question
What is sialidosis type I? How might this condition be treated? See answer