Intellectual disability, X-linked syndromic, Turner type
Intellectual disability, X-linked syndromic, Turner type
Definition
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.
Also known as Brooks Wisniewski Brown syndrome, Brooks-Wisniewski-Brown Syndrome, intellectual disability, X-linked syndromic, Turner type, mental retardation and macrocephaly syndrome, mental retardation, X-linked, syndromic, Turner type, MRXST, X-linked intellectual disability, Turner type — per MONDO