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GENATLAS PHENOTYPE

last update : 22-03-2020

Symbol	SMDP4
Location	Xp22.33
Name	surfactant metabolism dysfunction, pulmonary, 4
Other name(s)	pulmonary alveolar proteinosis congenital 4
Corresponding gene	CSFR2A
Main clinical features	progressive tachypnea and failure to thrive rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress
Genetic determination	sex linked
Function/system disorder	defense and immunity
	respiratory
Type	disease

Remark(s)