Also Known As
MRXS11SMRXSShashi X-linked intellectual disability syndromeShashi X-linked mental retardation syndromeX-linked intellectual disability Shashi typeX-linked mental retardation Shashi typeintellectual developmental disorder, syndromic 11, Shashi type, X-linked recessiveintellectual disability, X-linked, syndromic 11, Shashi typemental retardation, X-linked, syndromic 11, Shashi typesyndromic X-linked intellectual disability type 11X-linked intellectual disability, Shashi typeintellectual disability X-linked Shashi typeintellectual disability X-linked syndromic 11intellectual disability, X-linked, Shashi typeintellectual disability, X-linked, syndromic 11mental retardation X-linked Shashi typemental retardation X-linked syndromic 11mental retardation, X-linked, Shashi typemental retardation, X-linked, syndromic 11
Definition
X-linked intellectual disability, Shashi type is characterized 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 localized to the q21.3-q27 region of the X chromosome.