Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Disease data Classification Disease Synonyms Perniola-Krajewska-Carnevale syndrome Zespół Perniola, Krajewskiej i Carnevale ORPHA code 2850 OMIM code 613930 ICD10 code Q87.8 ICD11 code - *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