603358.1

United Arab Emirates

Intrauterine growth retardation; Failure to thrive; Intellectual disability

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001079866.1:c.385G>A	2		Mitochondrial Complex III Deficiency, Nuclear Type 1 GRACILE Syndrome

Authors not sure whther to diagnose with Gracile Syndrome or MC3DN1