Table 1.

Pathologies associated to ACO2 dominant and recessive variants, with the number of individuals (ind) and families (fam) referenced

Pathology	Transmission	Number of cases reported	References
ICRD	Recessive	8 ind from 2 fam	Spiegel et al.5
		3 ind from 2 fam	Metodiev et al.6
		1 ind	Srivastava et al.7
		9 ind from 3 fam	Sharkia et al.4
		1 ind	Blackburn et al.8
Neuromuscular	Recessive	1 ind	Sadat et al.9
		1 ind	Blackburn et al.8
HSP ‘+’	Recessive	1 ind	Marelli et al.11
		11 ind	Bouwkamp et al.10
		1 ind	Blackburn et al.8
Ataxia, dysarthria, dev. delay	Recessive	2 ind from 1 fam	Blackburn et al.8
ROA	Recessive	12 ind from 11 fam	This work
		2 ind from 1 fam	Metodiev et al.6
		2 ind from 1 fam	Kelman et al.12
		1 ind	Chen et al.13
		2 ind from 1 fam	Gibson et al.14
DOA	Dominant	66 ind from 50 fam	This work