Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: X-linked syndromic intellectual disability
Intellectual disability, X-linked syndromic, Turner type
An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
This condition has no sub-types.