Table 10 Syndromes and related genes

TCS (n= 25)

TCOF1

24

SPATA7

1

CFM (n= 9)

TCOF1

3

C1orf99

1

NRP1

1

STRA6

1

CYP11A1

1

MPI

1

EFTUD2

1

EYA3

1

PLA2G4A

1

ATP6V1E1

1

BCL2L13

1

BID

1

CECR1

1

CECR2

1

CECR4

1

CECR5

1

CECR6

1

CECR7

1

FLJ41941

1

GAB4

1

HSFY1P1

1

IL17RA

1

MICAL3

1

MIR3198

1

MIR648

1

PEX26

1

SLC25A18

1

TUBA8 e

1

USP18

1

XKR3

1

OAVS (n=6)

TCOF1

4

ATP6V1E1

1

BCL2L13

1

BID

1

CECR1

1

CECR2

1

CECR4

1

CECR5

1

CECR6

1

CECR7

1

FLJ41941

1

GAB4

1

HSFY1P1

1

IL17RA

1

MICAL3

1

MIR3198

1

MIR648

1

PEX26

1

SLC25A18

1

TUBA8 e

1

USP18

1

XKR3

1

STRA6

1

CYP11A1

1

MPI

1

BOR Syndrome (n= 3)

EYA1

1

EVEN-PLUS (n= 3)

HSPA9

3

Goldenhar Syndrome (n= 2)

EYA3

2

MDFM Syndrome (n= 2)

EFTUD2

2

MGS (n= 2)

DONSON

1

CDTI

1

CES (n= 1)

ATP6V1E1

1

BCL2L13

1

BID

1

CECR1

1

CECR2

1

CECR4

1

CECR5

1

CECR6

1

CECR7

1

FLJ41941

1

GAB4

1

HSFY1P1

1

IL17RA

1

MICAL3

1

MIR3198

1

MIR648

1

PEX26

1

SLC25A18

1

TUBA8 e

1

USP18

1

XKR3

1

CECR7

1

FLJ41941

1

GAB4

1

HSFY1P1

1

IL17RA

1

MICAL3

1

MIR3198

1

MIR648

1

PEX26

1

SLC25A18

1

TUBA8 e

1

USP18

1

XKR3

1

15q24 deletion syndrome (n= 1)

STRA6

1

CYP11A1

1

MPI

1

Frasser Syndrome (n= 1)

GRIP1

1

Kalmann Syndrome (n= 1)

FGFR1

1

Coffin-Siris Syndrome (n= 1)

ARID1A

1