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syndromic X-linked intellectual disability Shashi type
Summary
- Synonym
-
- MRXS11
- SMRXS
- Shashi X-linked mental retardation syndrome
- X-linked mental retardation Shashi type
- mental retardation, X-linked, syndromic 11, Shashi type
- syndromic X-linked intellectual disability type 11
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060826
- Mondo Disease Ontology
- ORDO
- OMIM
