265120.1.1

Lebanon

Tachypnea; Cyanosis; Pulmonary infiltrates; Right ventricular hypertrophy; Hypoxemia; Respiratory failure; Respiratory acidosis;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_198843.2:c.401delT	2		Surfactant Metabolism Dysfunction, Pulmonary, 1

Had a similarly affected sister by history; not genotyped

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
265120.1.2	Lebanon		Female			Mother of 265120.1.1
265120.1.3	Lebanon		Male			Father of 265120.1.1