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Human Disease

fragile X syndrome

Term ID
DOID:14261
Synonyms
  • FRAGILE X MENTAL RETARDATION SYNDROME
  • MARKER X SYNDROME
  • MARTIN-BELL SYNDROME
Definition
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. (3)
References
  • GARD:6464
  • ICD10CM:Q99.2
  • ICD9CM:759.83
  • MESH:D005600
  • MIM:300624
  • NCI:C84717
  • ORDO:908
  • SNOMEDCT_US_2023_03_01:390007001
  • UMLS_CUI:C0016667
Ontology
Human Disease   ( DOID:14261 )
Relationships
is a type of
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Genes Involved
Zebrafish Models