Table 1.

Overview of the Clinical Features of Subjects Carrying Mutations in Mitoribosomal Subunits

Reference	MRPS2	MRPS2	MRPS7	MRPS16	MRPS22	MRPS22	MRPS22	MRPS23	MPRS34	MRPL3	MRPL12	MRPL44	MRPL44
	this article (S1)	this article (S2)	Menezes et al.16	Miller et al.11	Saada et al.13	Smits et al.9	Baertling et al.19	Kohda et al.14	Lake et al.12	Galmiche et al.8	Serre et al.33	Distelmaier et al.10	Distelmaier et al.10
Number of subjects	1	1	2 siblings	1	3 siblings	1	1	1	6	4 siblings	1	1	1
Dysmorphic features	+	−	−	+	NR	+	NR	NR	+	−	+	−	−
Cardiac involvement	−	−	−	+	+	+	+	NR	−	+	NR	+	+
Hypotonia	+	+	NR	+	+	+	NR	NR	+	NR	+	+	NR
Skin involvement	+	−	−	redundant skin of the neck	−	redundant skin of the neck	−	NR	−	−	NR	−	−
Structural brain abnormalities	−	−	NR	+	NR	+	+	NR	+	+	+	NR	NR
Hearing impairment	+	+	++	NR	NR	−	NR	NR	−	NR	NR	NR	NR
Developmental delay	+/−	+	−	NR	NR	++	NR	NR	+	++	+	−	+/−
Growth delay	FTT	−	FTT	SGA	NR	NR	+	NR	+	FTT	SGA, FTT	NR	NR
Increased lactate levels	++	+	+	+	++	+	++	NR	+	+	+	+	+
Combined OXPHOS deficiency	+	+	+	+	+	+	+	+	+	+	+	+	+
Hypoglycemia	+	+	NR	NR	NR	NR	NR	+	NR	NR	NR	NR	NR
Age of presentation	infantile	infantile	infantile	neonatal	neonatal	neonatal	neonatal	infantile	neonatal or infantile	infantile	neonatal	infantile	neonatal
Age of death (or age at last follow up)	alive at 11 years	alive at 11 years	14 years; alive at 17 years	3 days	2–22 days	alive at 5 years	3 days	alive at 1 year and 6 months	range: dead at 8.5 months to alive at 17 years	two died at 15 and 17 months; two are alive at 3 years	2 years	alive at 8 years	alive at 26 years

Abbreviations are as follows: −, not present; +/−, mildly affected; +, present; ++, severely affected; NR, not reported; FTT, failure to thrive; SGA, small for gestational age.