Peculiar dysmorphic syndrome with orthochromatic leucodystrophy. Discussion of its relationship with Cockayne's syndrome and Pelizaeus-Merzbacher's disease.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001264:Athetosis / Q000150:complications / Q000175:diagnosis; D001921:Brain / Q000473:pathology; D002648:Child; D002819:Chorea / Q000175:diagnosis; D002906:Chromosomes, Human, 6-12 and X; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004392:Dwarfism / Q000175:diagnosis; D005260:Female; D005911:Gliosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis*; D009896:Optic Atrophy / Q000150:complications / Q000175:diagnosis; D013035:Spasm / Q000175:diagnosis; D014314:Trisomy