FRAXF syndrome

Definition

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.

Disease data

Classification

Disease

ORPHA code

100974

OMIM code

ICD10 code

ICD11 code

*Soruce