613561.4.1

Lebanon

Lactic acidosis; Anemia; Ventricular hypertrophy; Hepatomegaly; Cerebral atrophy; Neonatal death

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001040436.3:c.156C>G	2		Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2

Two subsequent pregnancies of the mother were terminated after a positive PGD

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613561.4.2	Lebanon		Female			Mother of 613561.4.1
613561.4.3	Lebanon		Male			Father of 613561.4.1