X-linked intellectual disability, Turner type

Definition

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.

NIH genetic and rare disease info

NIH info on X-linked intellectual disability, Turner type

X-linked intellectual disability, Turner type is a rare disease.

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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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X-linked intellectual disability, Turner type
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