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
• NCI:C84717
• OMIM:300624
• ORDO:908
• SNOMEDCT_US_2023_03_01:390007001
• UMLS_CUI:C0016667

Ontology

Human Disease   ( DOID:14261 )