intellectual disability, X-linked syndromic, Turner type

Rare Disease

MONDO:0010407

Also Known As

Brooks Wisniewski Brown syndromeBrooks-Wisniewski-Brown SyndromeBrooks-Wisniewski-Brown syndromeMRXSTX-linked intellectual disability, Brooks typeX-linked intellectual disability, Turner typeintellectual disability, X-linked syndromic, Turner typemental retardation and macrocephaly syndromemental retardation, X-linked, syndromic, Turner typesyndromic X-linked intellectual disability Turner typeJuberg-Marsidi SyndromeX-linked mental retardation Brooks typemental retardation, X-Linked, with growth retardation, deafness, and microgenitalismmental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Typemental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown 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.