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 | ||
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Progressive spastic paraplegia | 0007020 | |
| 30%-79% of people have these symptoms | ||
| Babinski sign | 0003487 | |
| Bulbous nose | 0000414 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Drooling |
Dribbling
|
0002307 |
| 0001332 | ||
| Facial |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ]
|
0000297 |
| Global |
0001263 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Poor speech | 0002465 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Spastic |
0002464 | |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ]
|
0002515 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the periventricular white matter | 0002518 | |
| Everted upper lip vermilion |
Outward turned upper lip
|
0010803 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Overweight | 0025502 | |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| 0001250 | ||
| Short philtrum | 0000322 | |
| Shyness | 0100962 | |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 1%-4% of people have these symptoms | ||
| Acetabular dysplasia | 0008807 | |
| Amblyopia |
Lazy eye
Wandering eye
[ more ]
|
0000646 |
| Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
| Genu recurvatum |
Back knee
Knee hyperextension
[ more ]
|
0002816 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
|
Symptoms present at birth
|
0003577 | |
| Decreased muscle mass | 0003199 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Prominent antihelix | 0000395 | |
| Spastic paraplegia | 0001258 | |
| Spastic tetraplegia | 0002510 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Ventriculomegaly | 0002119 | |
| 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 |
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.
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.
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.
