label: congenital emphysematous lung disease due to Filamin A loss-of-function variant
label_lc: congenital emphysematous lung disease due to filamin a loss-of-function variant
description: "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."