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 ear||-|
|Autosomal recessive inheritance||-|
|Coarse facial features||-|
|Elevated hepatic transaminases||-|
|Insulin-resistant diabetes mellitus||-|
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.
Workshop on Potential Therapeutic Use of Neurotrophic Factors for Ocular Diseases Thursday, November 7, 1996
Location: NIH Campus, Bethesda, MD
Contact: Dr. Maria Giovanni(301) 496-1884
Co-funding Institute(s): National Eye Institute
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