614739.G.1.2

Tunisia

Variant Name	Allele Count
NM_032861.4:c.1379G>A	2

Unaffected parents of 614739.G.1.1

Related Subjects

Subject Id	Country	HPO Terms	Family History	Parental Consanguinity	Remarks
614739.G.1.1	Tunisia	Respiratory distress; Infantile onset	Yes	Yes	Three siblings (two males; one female). Male patients died during neonatal period due to severe respiratory distress. Female patient died at age of two years.