Table 1. Homozygous variants found in patient II.5.

Gene	Chromosome	Reference sequence	Allele change	Protein change	Associated disease
SLC22A5	Chr5	NM_003060.3	c.1188 T>G	p.(Tyr396*)	PCD
RNF167	Chr17	NM_015528.2	c.833dup	p.(Pro279Serfs*17)	None

Abbreviation: PCD, Primary carnitine deficiency.