Orpha Number: 93974
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
(present in 1%-4% of cases)
|Abnormality of blood and blood-forming
|Coarse facial features||-|
|Decreased testicular size||-|
|Delayed skeletal maturation||-|
|Intellectual disability, severe||-|
|Lower limb hypertonia||-|
|Paroxysmal bursts of laughter||-|
|Posteriorly rotated ears||-|
|Radial deviation of finger||-|
|Sensorineural hearing impairment||-|
|Short upper lip||-|
|Tented upper lip vermilion||-|
|Thick lower lip vermilion||-|
|Triangular nasal tip||-|
|Upslanted palpebral fissure||-|
|U-Shaped upper lip vermilion||-|
|Wide nasal bridge||-|
|Widely-spaced maxillary central incisors||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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