Table S1.
List of candidate homozygous variants in family 1 based on exome sequencing
| Chr | Position | Reference | Variant | Gene | Consequence | Our 616 exomes | Clinseq | 1000 Genomes | ExAC | Polyphen | Patient 1 | Father | Mother | Healthy sibling |
| chr1 | 38397501 | C | T | INPP5B | c.439G>A:p.A147T | 0.0045 | 0.0016 | 0 | 3.22E-03 | Probably damaging | TT | CT | CT | CT |
| chr1 | 54371889 | G | A | DIO1 | c.459G>A:p.M153I | 0.0041 | 0.0011 | 0 | 2.21E-03 | Probably damaging | AA | AG | AG | AG |
| chr1 | 55166996 | G | A | MROH7 | c.3285+1G>A | 0.0043 | 0 | 0 | 4.33E-04 | / | AA | AG | AG | AG |
| chr1 | 63329777 | G | T | ATG4C | c.1324G>T:p.D442Y | 0.0065 | 0.0032 | 0.0005 | 1.55E-03 | Possibly damaging | TT | GT | GT | GT |
| chr3 | 39226171 | G | A | XIRP1 | c.4766C>T:p.T1589I | 0.0033 | 0.0011 | 0 | 5.55E-03 | Benign | AA | AG | AG | GG |
| chr3 | 52537419 | A | G | STAB1 | c.754A>G:p.K252E | 0.0041 | 0.0005 | 0 | 2.26E-03 | Benign | GG | AG | AG | AG |
| chr3 | 111842564 | C | T | GCSAM | c.281G>A:p.R94Q | 0.0033 | 0 | 0 | 1.63E-05 | Benign | TT | CT | CT | CC |
| chr3 | 112648018 | A | G | CD200R1 | c.539T>C:p.L180S | 0.0033 | 0.0011 | 0 | 4.77E-03 | Benign | GG | AG | AG | AA |
| chr3 | 119911827 | G | A | GPR156 | c.433C>T:p.L145F | 0.0033 | 0 | 0.0014 | 7.40E-04 | Probably damaging | AA | AG | AG | GG |
| chr3 | 126255146 | C | T | CHST13 | c.130C>T:p.L44F | 0.0033 | 0 | 0 | 3.43E-03 | Benign | TT | CT | CT | CC |
| chr3 | 127983506 | C | T | EEFSEC | c.668C>T:p.P223L | 0.0049 | 0.0021 | 0.0005 | 1.97E-03 | Probably damaging | TT | CT | CT | CC |
| chr5 | 5463514 | C | T | KIAA0947 | c.4067C>T:p.T1356I | 0.0042 | 0 | 0 | 0 | Benign | TT | CT | CT | CT |
| chr5 | 14690368 | T | C | FAM105B | c.815T>C:p.L272P | 0.0025 | 0 | 0 | 0 | Probably damaging | CC | CT | CT | CT |
| chr6 | 131179287 | C | T | EPB41L2 | c.2548G>A:p.G850R | 0.0041 | 0.0016 | 0 | 2.02E-03 | Probably damaging | TT | CT | CT | CT |
| chr12 | 10464155 | C | T | KLRD1 | c.256C>T:p.R86W | 0.0049 | 0 | 0 | 5.69E-05 | Probably damaging | TT | CT | CT | CT |
| chr13 | 53603108 | T | A | OLFM4 | c.137T>A:p.F46Y | 0.0033 | 0 | 0 | 3.60E-03 | Benign | AA | AT | AT | TT |
| chr15 | 34077949 | G | A | RYR3 | c.9355G>A:p.E3119K | 0.0058 | 0.001 | 0 | 2.47E-03 | Probably damaging | AA | AG | AG | GG |
| chr15 | 43512935 | C | T | EPB42 | c.89G>A:p.S30N | 0.0041 | 0.0011 | 0.0027 | 1.35E-03 | Benign | TT | CT | CT | CT |
| chr16 | 56709804 | C | A | MT1IP | c.134C>A:p.A45E | 0.0129 | 0 | 0.0046 | 2.25E-03 | NA | AA | AC | AC | AC |
| chr16 | 57602000 | C | T | GPR114 | c.1054C>T:p.R352C | 0.0041 | 0 | 0.0005 | 9.03E-04 | Probably damaging | TT | CT | CT | CT |
| chr19 | 1117467 | G | A | SBNO2 | c.1559C>T:p.A520V | 0.015 | 0 | 0 | 3.31E-05 | Probably damaging | AA | AG | AG | AG |
Boldface type indicates the only gene in common between family 1 and patient 2.