Term Name: | syndromic X-linked intellectual disability Shashi type |
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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 |
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. |
Ontology: | Human Disease [DOID:0060826] ( DOID:0060826 ) |