615471.3.1

Lebanon

Neurodevelopmental delay; Generalized hypotonia; Abnormal facial shape; Anemia; Thrombocytosis

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_012160.4:c.1303C>T	2		Mitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615471.3.2	Lebanon		Female			Mother of 615471.3.1
615471.3.3	Lebanon		Male			Father of 615471.3.1