Other Names for this Disease
- Intellectual disability, deafness, skeletal abnormalities, coarse face with full lips
- Deafness, skeletal dysplasia, lip granuloma
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- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.