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)|
|Intrauterine growth retardation||90%|
|Neurological speech impairment||90%|
|Sensorineural hearing impairment||90%|
|Abnormality of retinal pigmentation||50%|
|Abnormality of the fontanelles or cranial sutures||50%|
|Abnormality of the pulmonary artery||50%|
|Aplasia/Hypoplasia of the iris||50%|
|Atria septal defect||50%|
|Patent ductus arteriosus||50%|
|Ventricular septal defect||50%|
|Abnormality of the metaphyses||7.5%|
|Opacification of the corneal stroma||7.5%|
|Type I diabetes mellitus||7.5%|
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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