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Table 1 Genetic and phenotypic heterogeneity

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

Clinical features Diodato et al. Taylor et al. This study
NM_001167734.1: c.1100C>T, p.Thr367Ile (Hom) NM_001167734.1:
c.1135G>A,p.Ala379Thr (Het)
c.1877C>A, p.Ala626Asp (Het)
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
  1. X : affected