Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060826 )
Relationships
is a type of
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Genes Involved
Zebrafish Models