Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A group of multiple congenital anomalies syndromes associated to <i>KLHL7</i> biallelic variants, ranging from a phenotype partially overlapping the Bohring-Opitz syndrome (BOS) to a phenotype overlapping the Crisponi/Cold-Induced Sweating syndrome (CS/CISS), with some patients presenting features of both conditions. Disease data Klasyfikacja Clinical group Kod ORPHA 603699 Kod OMIM - Kod ICD10 - Kod ICD11 - *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