OBO ID: DOID:0060826
Term Name: syndromic X-linked intellectual disability Shashi type Search Ontology:
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:
OTHER syndromic X-linked intellectual disability Shashi type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type 300238
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None