C4274329_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?: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. Prevalence is unknown. The FRAXF fragile site is located at Xq28 within the 5\'UTR of the TMEM185A gene.
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