Syndromic X-linked intellectual disability Shashi type
Syndromic X-linked intellectual disability Shashi type
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.
Also known as intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive, intellectual disability, X-linked, syndromic 11, Shashi type, MRXS11, Shashi X-linked intellectual disability syndrome, Shashi X-linked mental retardation syndrome, SMRXS, syndromic X-linked intellectual disability type 11, X-linked intellectual disability Shashi type — per MONDO