]> 2026-07-31T16:29:03+00:00 WBR0217 0 en Caused by sporadic mutation Caused by expansion of repeats Caused by chromosomal deletion Caused by autosomal recessive inheritance Caused by autosomal dominant inheritance Genetics A 6-year-old boy is brought to the clinic for partial seizures. The patient was born via normal vaginal delivery to consanguineous parents. The parents state that the patient had delayed speech and motor skills compared to his peers when he was young. They also report that he has autistic-like behavior and suffers from mental retardation. On physical exam, the patient has a long face with everted ears. Cardiac auscultation is remarkable for a mid-systolic click followed by a systolic murmur that is best appreciated at the the 5th left mid-clavicular intercostal space. The physician suspects a genetic disease and orders genetic testing to confirm his suspicion. Which genetic disorder best characterizes this patient's condition? B Neurology 2020-10-27T23:47:57Z 2459150.4916319 WBR0217