Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Congenital nervous system disorder · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · X-linked syndromic intellectual disability
Syndromic X-linked intellectual disability Shashi type
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.
This condition has no sub-types.