Phenotype #0000078477

Individual ID	00100241
Associated disease	SMDP2
Phenotype details	see paper; ..., chest radiography showed hyperinflation with increased interstitial markings, open-lung biopsy histologic features resemble most closely cellular or nonspecific interstitial pneumonitis; mother 1y diagnosed with desquamative interstitial pneumonitis treated until 15y with glucocorticoids, lung disease worsened after delivery, died from respiratory failure; maternal grandfather died from lifelong lung disease of unknown cause
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y01m15d
Phenotype/Onset	respiratory symptoms of tachypnea, cyanosis while breathing room air
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-02-07 21:45:30 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD