603041.1.2

Tunisia

Cachexia; Short stature; Abnormal facial shape; Increased circulating lactate concentration; Cardiomyopathy; Diabetes mellitus; Muscle weakness

Male

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_001953.5:c.1190T>A	2	Mitochondrial DNA Depletion Syndrome 1 (MNGIE Type)
NC_012920.1:m.10158T>A
NC_012920.1:m.10899A>G

Brother of 603041.1.1. Phenotypic variability noted in this patient compared to his sibling could be atrributed to variants in MTND3 and MTND4.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
603041.1.1	Tunisia	Cachexia; Peripheral neuropathy; Myopathy; Short stature; Tachycardia; Delayed puberty; Abnormal facial shape; Leukoencephalopathy; Increased circulating lactate concentration	Female	Yes	Yes	Patient "P1" in the publication
603041.1.G	Tunisia					Unaffected relatives of 603041.1.1 (parents + brother)