Table 3.

Clinical phenotypes of male patients with EIF2S3 mutations from four separate studies. Clinical phenotypes from previous reports by Borck et al ⁵, Moortgat et al ⁶, Skopkova et al ⁷, Stanik J et al ²⁹, and from this current study, respectively. Not all unique additional features listed under each study were present in every patient described; each male within the study had various combinations of these features.

Borck et al. 2012 Mol Cell	Moortgat et al. 2016 AJMG	Skopkova et al. 2017 Hum Mutat, Stanik J et al. 2018 Physiol Res	This study – Pedigree 1
EIF2S3, p.Iso222Thr in the highly conserved GTP-binding (G) domain	EIF2S3, p.Iso259Met and p.Iso465Serfs*4 in two unrelated pedigrees in the C-terminal domain	EIF2S3, p.Iso465Serfs*4 and pSer108Arg in four unrelated pedigrees	EIF2S3, p.Pro432Ser in the C-terminal domain
Three males: 2 brothers and maternal uncle •Intellectual disability (moderate to severe) •Microcephaly •Short stature with GHD in two patients •Facial dysmorphic features •Epilepsy •Thin corpus callosum on MRI •Enlarged lateral ventricles on MRI	Three males: 2 brothers, 1 unrelated male •Severe intellectual disability •Microcephaly •GHD •Hypoglycaemia •Epilepsy •Thin corpus callosum on MRI •Normal pituitary and stalk on MRI •Global white matter loss on MRI	Four unrelated male patients: •Microcephaly •Seizures •Hypotonia (axial) •Hypertonia (peripheral) •Hypogonadism •Developmental delay •Obesity (Infancy onset)	Three males: 2 brothers and maternal male cousin •GHD •Central hypothyroidism •Unique pancreatic phenotype: fluctuation between hyperinsulinaemic hypoglycaemia and hyperglycaemia •Small anterior pituitary on MRI •Thin corpus callosum on MRI •Generalised white matter loss on MRI
		The three unrelated males with severe MEHMO syndrome only: •Seizures •Growth retardation •Neonatal hypoglycaemia (2 patients only) •Early onset insulin-dependent diabetes •Variable hypopituitarism
Unique additional features: Cleft lip/palate •Behavioural problems •Postpubertal microgenitalism •Obesity	Unique additional features: Spastic quadriplegia •Convergent strabismus •Delayed puberty •Genital abnormalities •Micrognathia (undersized jaw) •Hypotonia •Global reduction of white matter on MRI	Unique additional features: •Atrial septal defect •Severe combined dyslipidaemia •facial telangiectasia •Chronic lung disease •Congenital scoliosis •Dysphagia	Unique additional features: •Developmental delay •Behavioural problems •Micropenis •Undescended testes •Severe eczema •Convergent squint •Generalised white matter loss on MRI •Ventricular asymmetry on MRI