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 the kidney||95%|
|Abnormality of retinal pigmentation||90%|
|Abnormality of the genital system||90%|
|Abnormality of the ovary||7.5%|
|Autosomal recessive inheritance||-|
|Biliary tract abnormality||-|
|Congenital primary aphakia||-|
|Decreased testicular size||-|
|Delayed speech and language development||-|
|Left ventricular hypertrophy||-|
|Nephrogenic diabetes insipidus||-|
|Neurological speech impairment||-|
|Postaxial hand polydactyly||-|
|Radial deviation of finger||-|
|Specific learning disability||-|
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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.
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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