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)|
|Abnormality of immune system physiology||90%|
|Neurological speech impairment||90%|
|Abnormality of the anterior chamber||50%|
|Abnormality of the palate||50%|
|Aplasia/Hypoplasia of the iris||50%|
|Wide nasal bridge||50%|
|Abnormality of lipid metabolism||7.5%|
|Abnormality of the pinna||7.5%|
|Everted lower lip vermilion||7.5%|
|Reduced bone mineral density||7.5%|
|Sensorineural hearing impairment||7.5%|
|Underdeveloped supraorbital ridges||7.5%|
|Autosomal recessive inheritance||-|
|Delayed CNS myelination||-|
|Depressed nasal bridge||-|
|Hypoplasia of the iris||-|
|Large fleshy ears||-|
|Low anterior hairline||-|
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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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