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Up to: Interstitial lung disease specific to childhood
Congenital emphysematous lung disease due to Filamin A loss-of-function variant
Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.
This condition has no sub-types.