Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. Disease data Classification Malformation syndrome Synonyms Syndromic X-linked intellectual disability type 11 Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X typu 11 ORPHA code 85286 OMIM code 300238 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