[Familial encephalo-retinal dysplasia (Krause-Reese-Syndrome) with myoclonic-astatic petit mal seizures].
D000015:Abnormalities, Multiple; D001763:Blepharoptosis; D001925:Brain Damage, Chronic / Q000235:genetics*; D002648:Child; D002971:Cleft Lip; D004832:Epilepsy, Absence; D005654:Fundus Oculi; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008588:Meningocele; D009207:Myoclonus; D012160:Retina / Q000002:abnormalities*; D016135:Spinal Dysraphism; D014786:Vision Disorders / Q000235:genetics
Familiäre, encephalo-retinale Dysplasie (Krause-Reese-Syndrom) mit myoklonisch-astatischem Petit Mal.