Orpha Number: 1914
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 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Epiphyseal stippling |
Speckled calcifications in end part of bone
|
0010655 |
Punctate vertebral calcifications | 0008420 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
30%-79% of people have these symptoms | ||
Short fingers or toes
|
0001156 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short neck |
Decreased length of neck
|
0000470 |
5%-29% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Aplasia/Hypoplasia affecting the eye |
Absent/small eye
Absent/underdeveloped eye
[ more ]
|
0008056 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Muscular |
Low or weak muscle tone
|
0001252 |
Myelomeningocele | 0002475 | |
Optic atrophy | 0000648 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
0001250 | ||
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
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.
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