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 electroretinogram | 0000512 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Multicystic kidney dysplasia | 0000003 | |
| Obesity |
Having too much body fat
|
0001513 |
| Pigmentary retinopathy | 0000580 | |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| 30%-79% of people have these symptoms | ||
| 0000822 | ||
|
Decreased activity of gonads
|
0000135 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Hypoplasia of the ovary |
Underdeveloped ovary
|
0008724 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 5%-29% of people have these symptoms | ||
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Finger |
0006101 | |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hepatic fibrosis | 0001395 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Medial flaring of the eyebrow | 0010747 | |
| Nephrotic |
0000100 | |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Short neck |
Decreased length of neck
|
0000470 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Abnormality of the ovary |
Abnormality of the ovaries
|
0000137 |
| Allergy | 0012393 | |
| Asthma | 0002099 | |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| 0001251 | ||
| 0000007 | ||
| Biliary tract abnormality | 0001080 | |
|
Short fingers or toes
|
0001156 | |
| Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| 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 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| 0000819 | ||
| Foot polydactyly |
Duplication of bones of the toes
|
0001829 |
| Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ]
|
0002141 |
| 0000501 | ||
| Global |
0001263 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Left ventricular hypertrophy | 0001712 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Nephrogenic diabetes insipidus | 0009806 | |
| Poor coordination | 0002370 | |
| Radial deviation of finger | 0009466 | |
| Retinal degeneration |
Retina degeneration
|
0000546 |
| Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
| Rod-cone dystrophy | 0000510 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Specific learning disability | 0001328 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Syndactyly |
Webbed fingers or toes
|
0001159 |
| Vaginal atresia |
Abnormally closed or absent vagina
|
0000148 |
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.
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.
