Don’t fight Autosomal dominant intellectual disability 30 alone.Find your community on the free RareGuru App.
Autosomal dominant intellectual disability 30 is a rare genetic condition characterized by developmental delay, speech delay, social difficulties and behavioral problems. Other symptoms and features may include aggressive behavior with mood swings in childhood, unusual facial features (wide spaced eyes (hypertelorism), drooping eyelids (ptosis), and a wide mouth), autism spectrum disorder, poor muscle tone (hypotonia), epilepsy, and deafness. One of the few patients described also had a happy disposition and uncoordinated gait (unsteady while walking), as well as eosinophilic esophagitis and multiple allergies. The condition is caused by mutations in the ZMYND11 gene. Inheritance seems to be autosomal dominant. The loss of this gene may also cause some of the features in the recently described 10p15.3 microdeletion syndrome. Treatment depends on the symptoms and features present and may include behavioral therapy, speech therapy, physical therapy, occupational therapy, and medication.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!