Table 1. Clinical comparison between all patients reported to date with TRAPPC6B mutations .

Patient	Age at diagnosis (y)	Microcephaly	ID	Autistic features	Hypotonia	Ataxia	Seizures	Lactic acidosis	MRI findings	TRAPPC6B mutation	Reference
1	8	+	+	+	+	+	+	NA	NA	p.E28VfsTer11	10
2	3	+	+	+	+	+	+	NA	NA	p.E28VfsTer11	10
3	12	+	+	+	+	++	+	NA	Cortical atrophy, thin corpus callosum, cerebellar atrophy; all progressive	p.E28VfsTer11	10
4	10	+	+	+	+	++	+	NA	Cortical atrophy, thin corpus callosum, cerebellar atrophy	p.E28VfsTer11	10
5	10	+	+	+	+	+	+	NA	Thin corpus callosum	p.E28VfsTer11	10
6	2	+	+	+	+	+	+	NA	Cortical atrophy, thin corpus callosum	p.E28VfsTer11	10
7	NA	–	+	–	–	–	–	–	NA	p.Arg42Ter	14
8	3.5	+	+	−	+	−	–	+	Thinning of corpus callosum, periventricular leucomalacia	p.Leu8Ter	Present study

Abbreviation: ID, intellectual disability.

Note: + indicates presence of indicated sign, ++ indicates presence of sign with increased severity, − indicates absence of indicated sign, and NA indicates nonavailability of information.