615419.1

Lebanon

Delayed speech and language development; Intellectual disability; Hypotonia; Motor delay; Developmental regression; Abnormality of the mitochondrion

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_052867.4:c.3056dupT	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1