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FRAXF syndrome

Disease Summary
Associated Targets (1)
Tdark

1


Explore Associated Targets
Mondo Description FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
Mondo Term and Equivalent IDs
MONDO:0015084:  FRAXF syndrome
Orphanet:100974: 
SCTID:716708005: 
UMLS:C4274329: 
UMLS:CN197382: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found