Orpha Number: 263487
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 | ||
| 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 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Motor delay | 0001270 | |
| 30%-79% of people have these symptoms | ||
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 5%-29% of people have these symptoms | ||
| Abnormal isoelectric focusing of serum transferrin | 0003160 | |
| Abnormality of the frontal hairline |
Abnormality of hairline at front of head
|
0000599 |
| Atrophy/Degeneration affecting the brainstem | 0007366 | |
| Autistic behavior | 0000729 | |
| Brisk reflexes | 0001348 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral visual impairment | 0100704 | |
| Cerebral white matter atrophy | 0012762 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed myelination | 0012448 | |
| Diffuse cerebral atrophy | 0002506 | |
| Dilation of lateral ventricles | 0006956 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Finger clinodactyly | 0040019 | |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Genu valgum |
Knock knees
|
0002857 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
|
Enlarged liver and spleen
|
0001433 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Neurogenic bladder |
Lack of bladder control due to nervous system injury
|
0000011 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Premature skin wrinkling | 0100678 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| 0001250 | ||
| Sensorineural hearing impairment | 0000407 | |
| Short neck |
Decreased length of neck
|
0000470 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Truncal |
Instability or lack of coordination of central trunk muscles
|
0002078 |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| 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 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Type I transferrin isoform profile | 0003642 | |
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.
