X-linked intellectual disability, Shashi type

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Synonyms: Syndromic X-linked intellectual disability type 11

X-linked intellectual disability Shashi type is characterised by moderate intellectual deficit obesity macroorchidism and a characteristic facies (large ears a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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X-linked intellectual disability, Shashi type?

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