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)|
|Neurological speech impairment||50%|
|Abnormality of calvarial morphology||7.5%|
|Abnormality of the voice||7.5%|
|Aplasia/Hypoplasia of the earlobes||7.5%|
|Coarse facial features||7.5%|
|Everted lower lip vermilion||7.5%|
|Hypoplasia of penis||7.5%|
|Preauricular skin tag||7.5%|
|Reduced number of teeth||7.5%|
|Toxemia of pregnancy||7.5%|
|Broad nasal tip||-|
|Decreased muscle mass||-|
|Decreased testicular size||-|
|Deeply set eye||-|
|Delayed speech and language development||-|
|Misalignment of teeth||-|
|Prominent supraorbital ridges||-|
|X-linked dominant inheritance||-|
|X-linked recessive inheritance||-|
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