Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Table 1 Genetic and phenotypic heterogeneity

Clinical features	Diodato et al.	Taylor et al.	This study
Clinical features	NM_001167734.1: c.1100C>T, p.Thr367Ile (Hom)	NM_001167734.1: c.1135G>A,p.Ala379Thr (Het) c.1877C>A, p.Ala626Asp (Het)	NM_006295: c.A3253G; p.S1085G
Mental retardation	X		X
Facial dysmorphisms	X		X
Ataxia		X	X
Combined oxidative phosphorylation deficiencies		X
Microcephaly	X		X
Progressive external ophthalmoplegia		X
Epilepsy	X		X
Short stature			X
Hyperintense lesions in the periventricular regions, the insula, and the right frontotemporal cortex	X
Evidence of severe growth hormone deficiency			X
Hypogonadism			X
Severe osteomalacia			X

ISSN: 1479-7364