syndromic X-linked intellectual disability Shashi type

Term ID

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

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. (2)

References

• ICD10CM:Q87.8
• OMIM:300238
• ORDO:85286

Ontology

Human Disease   ( DOID:0060826 )