Supplementary Table 1.

Variants were found by whole-exome sequencing

Gene	Change	Annotation
Homozygous variants
AKAP9	missense_variant	NM_005751.4:p.Met3905Thr/c.11714T>C
C6orf223	missense_variant	NM_153246.5:p.Arg26Trp/c.76C>T
CALD1	missense_variant	NM_033138.3:p.Ala265Val/c.794C>T
CFAP47	missense_variant	NM_001304548.1:p.Asp2873Asn/c.8617G>A
COPG2	missense_variant	NM_012133.5:p.Leu203Val/c.607C>G
ERC1	missense_variant	NM_178040.3:p.Gln971Arg/c.2912A>G
FAM47B	missense_variant	NM_152631.2:p.Arg39Lys/c.116G>A
GRM4	missense_variant	NM_000841.3:p.His377Gln/c.1131C>A
HDAC6	missense_variant	NM_001321225.1:p.Arg849Gln/c.2546G>A
KEL	missense_variant	NM_000420.2:p.Ala313Thr/c.937G>A
MBOAT1	missense_variant	NM_001080480.2:p.Thr257Met/c.770C>T
MUC12	missense_variant	NM_001164462.1:p.Ser498Gly/c.1492A>G
MUC12	missense_variant	NM_001164462.1:p.Gly32Ser/c.94G>A
MUC17	missense_variant	NM_001040105.1:p.Thr2355Ile/c.7064C>T
NRCAM	missense_variant	NM_001037132.2:p.Met846Val/c.2536A>G
PLOD3	missense_variant	NM_001084.4:p.Val360Leu/c.1078G>C
PTPRZ1	missense_variant	NM_002851.2:p.His1129Pro/c.3386A>C
SSPO	missense_variant	NM_198455.2:p.Ser3574Phe/c.10721C>T
SSPO	missense_variant	NM_198455.2:p.His1173Arg/c.3518A>G
STX1A	missense_variant	NM_004603.3:p.Gln6Arg/c.17A>G
TECPR1	missense_variant	NM_015395.2:p.Cys801Ser/c.2401T>A
TYW1	missense_variant	NM_018264.3:p.Ala175Val/c.524C>T
Compound heterozygous variants
S1PR4	missense_variant	NM_003775.3:p.Gly167Ser/c.499G>A
S1PR4	missense_variant	NM_003775.3:p.Arg192His/c.575G>A

MBOAT1: membrane-bound O-acyltransferase domain-containing 1