271245.1

Lebanon

Microcephaly; Delayed speech and language development; Hypotonia; Global developmental delay; Motor delay; Developmental regression

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021830.5:c.1003C>A	2		Mitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)