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intellectual disability, X-linked syndromic, Turner type

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description X-linked intellectual disability, Turner type is characterised 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.
Mondo Term and Equivalent IDs
MONDO:0010407:  intellectual disability, X-linked syndromic, Turner type
GARD:0005604: 
MESH:C563154: 
MESH:C567476: 
Orphanet:3056: 
Orphanet:85328: 
SCTID:725912001: 
UMLS:C0796272: 
UMLS:C2678046: