The clinical pattern of the Rett syndrome.
A case of infantile spasms who developed later on many characteristics of Rett syndrome is described. Rett syndrome was also observed in two sisters. This will probably have great importance for genetic counselling.
D000293:Adolescent; D000328:Adult; D000641:Ammonia / Q000097:blood; D001259:Ataxia / Q000175:diagnosis; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003704:Dementia / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008831:Microcephaly / Q000175:diagnosis; D019965:Neurocognitive Disorders / Q000175:diagnosis* / Q000235:genetics; D013036:Spasms, Infantile / Q000175:diagnosis; D013239:Stereotyped Behavior; D013577:Syndrome
D000641:Ammonia