Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Disease data Klasyfikacja Disease Synonimy Shokeir syndrome Zespół Shokeira Kod ORPHA 1008 Kod OMIM 104130 Kod ICD10 Q87.8 Kod ICD11 LD90.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl