Orpha Number: 3220
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 eyelid morphology |
Abnormality of the eyelid
Abnormality of the eyelids
[ more ]
|
0000492 |
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
Abnormal hair quantity | 0011362 | |
Abnormal nasolacrimal system morphology | 0000614 | |
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ]
|
0008388 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Abnormality of nail color |
Abnormality of nail colour
|
0100643 |
0000819 | ||
External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
Decreased activity of gonads
|
0000135 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Pili torti |
Flattened and twisted hair
|
0003777 |
Sensorineural hearing impairment | 0000407 | |
Taurodontia | 0000679 | |
Thin eyebrow |
Thin eyebrows
|
0045074 |
30%-79% of people have these symptoms | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Large hands |
large hand
|
0001176 |
Primary amenorrhea | 0000786 | |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
5%-29% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
High anterior hairline |
High frontal hairline
|
0009890 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
Ichthyosis | 0008064 | |
Macular dystrophy | 0007754 | |
Muscle flaccidity | 0010547 | |
Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
Percent of people who have these symptoms is not available through HPO | ||
Amelogenesis imperfecta | 0000705 | |
0000007 | ||
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Leukonychia |
White discoloration of nails
|
0001820 |
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.
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.