234810.1.1

Lebanon

Exertional dyspnea; Pulmonary arterial hypertension; Arterial intimal fibrosis; Death (3 Years after diagnosis)

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001013703.4:c.560_564del	2		Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Parental Consanguinity	Remarks
234810.1.2	Lebanon	Asymptomatic	Male	No	Brother of 234810.1.1
234810.1.3	Lebanon		Female		Mother of 234810.1.1
234810.1.4	Lebanon		Female		Sister of 234810.1.1