(b).

	Saunier, et al. [2016]									Valentine, et al. [2018]	Gupta, et al. [2019]
NAA10 gene pathogenic variant	c.319G>T p.(Val107Phe)	c.384T>A p.(Phe128Leu)	c.384T>A p.(Phe128Leu)	c.382T>A p.(Phe128Ile)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.346C>T (p.Arg116Trp)	c.247C>T p.(Arg83Cys)
Inheritance	de novo	de novo	de novo	de novo	de novo	de novo	de novo	de novo	inherited	de novo	de novo
Gender	F	F	F	F	F	F	F	F	F	F	F
Eye findings	Astigmatism, strabismus, mild optic atrophy	Cortical vision impairment	Cortical vision impairment, ambylopia	Hyperopia, astigmatism, exotropia	Myopia, astigmatism	Alternating exotropia, cortical vision impairment	Astigmatism, hyperopia	Hyperopia	Myopia	Ptosis, eyelid myoclonus	Myopic astigmatism, nystagmus, exotropia
Dysmorphic features	+	-				+		+	+	+	+
Cardiac anomalies	+	+	-	+	+	-	+	+	-	-	-
Renal anomalies	-	-	-	-	-	-	+	-	+		-
Neuro	Hypotonia. MRI- thin corpus callosum	Hypotonia. MRI- parenchymal atrophy, thin corpus callosum. Pre and postnatal vetriculomegaly	Hypotonia. Seizures. MRI normal at age 1	Hyper/ hypotonia. MRI- Supraventricular cyst without hyocephalus	Hypotonia. MRI- Periventricular white matter loss	Hyper/ hypotonia. MRI- IVH occipital horn, periventricular leukomalacia, hypoxia ischemic encephalopathy	Hypotonia. MRI normal at age 3		Hypertonia	Hypo/ hypertonia. Absence seizures	Hypotonia, seizures, MRI at age 3- ventricular prominence without hydrocephalus and diminutive geni and corpus callosum
Feeding issues/FTT	+	+	+	+	+	+	+	+		-	+
Developmental delay	+	+	+	+	+	+	+	+	+	+	+
Motor delay	+	+	+		+	+	+	+	+		+