What Is MED13L Haploinsufficiency Syndrome?
MED13L haploinsufficiency syndrome is caused by changes (pathogenic variants, also called mutations) in the MED13Lgene. Diagnosis may be suspected due to distinctive facial features, speech delay, and intellectual disability, but must be confirmed by genetic testing. There is no cure or specific treatment for MED13L haploinsufficiency syndrome. Treatment depends on the types and severity of the medical, developmental, and behavioral problems affecting the person with the syndrome and may include heart surgery and therapies such as speech, occupational, and behavioral therapy.
Source: Genetic and Rare Diseases (GARD) Information Center