Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities; D009666:Nose / Q000002:abnormalities; D012640:Seizures / Q000473:pathology; D013577:Syndrome