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syndromic X-linked intellectual disability Shashi type (DOID:0060826)
Synonyms: mental retardation, X-linked, syndromic 11, Shashi type; MRXS11; Shashi X-linked mental retardation syndrome; SMRXS; syndromic X-linked intellectual disability type 11; X-linked mental retardation Shashi type
Alt IDs: OMIM:300238, ICD10CM:Q87.8, ORDO:85286
Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.


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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory