congenital emphysematous lung disease due to Filamin A loss-of-function variant
MONDO:0800135Mondo
Findings
No curated finding names congenital emphysematous lung disease due to Filamin A loss-of-function variant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0800135), read 2026-09-29. CC BY 4.0.