Orpha Number: 2510
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 |
Aplasia/Hypoplasia of the |
0007370 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cerebral visual impairment | 0100704 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscular |
Low or weak muscle tone
|
0001252 |
Optic atrophy | 0000648 | |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short philtrum | 0000322 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
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 |
30%-79% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Abnormality of visual evoked potentials | 0000649 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ]
|
0000060 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypoplastic labia minora |
Underdeveloped inner lips
|
0000064 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Low-set, posteriorly rotated ears | 0000368 | |
Macrotia |
Large ears
|
0000400 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
0002650 | ||
5%-29% of people have these symptoms | ||
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
Cerebellar vermis hypoplasia | 0001320 | |
Hydronephrosis | 0000126 | |
0009830 | ||
Retinal coloboma |
Hole in the back of the eye
|
0000480 |
0001250 |
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.
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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