Table 2. Candidate genes identified by exome sequencing.

Chromosome	Gene	cDNA postion	Amino-acid position	phyloPa
Homozygous variants
1	HRNR	1805C>A	S602Y	1.6
4	C4orf37	1274G>A	R425H	2.3
5	WDR41	862_864del	H288del	–
12	TMCC3	268G>A	D90N	4.5
Compound heterozygous variants
7	PLXNA4	1415G>A	G472E	−1.3
		4040G>A	R1347H	3.7
8	PKHD1L1	7437C>A	H2479Q	0.4
		8282G>A	G2761E	5.7
11	DPAGT1	85A>T	I29F	4.8
		503T>C	L168P	4.9
13	CKAP2	565A>G	N188D	1.7
		1767A>C	L588F	−2.3

Abbreviation: cDNA, complementary DNA.

^aConservation score.