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.
MONDO:0017014
interstitial lung disease specific to childhood
is_a