[An unusual picture of pigmentary dermatologic disease associated with retinitis pigmentosa, cataract and congenital deafness, oligophrenia and cerebellar ataxia].
D001259:Ataxia / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002526:Cerebellar Diseases / Q000235:genetics*; D003638:Deafness / Q000151:congenital* / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008875:Middle Aged; D010859:Pigmentation Disorders / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
Un insolito quadro di dermatopatia pigmentaria associato a retinite pigmentosa, cataratta e sordità congenite, oligofrenia ed atassia cerebellare.