S2 (F, 20 years)  1645A>T (8)  R549X  +  ++  −  +  +  3 years and 6 months  PDA  ACC  Exotropia  11, 14, 17 
S4 (M, 25 years)  2083C>T (8)  R695X  +  ++  +*  +  +  8 years  −  NE  HPS  11, 14, 17 
S5 (M, 25 years)  1173del4 (8)  392fs394X  +  ++  +  +  +  5 years and 3 months  PDA  WNL   11, 14, 17 
S6 (M, 28 years)  2083C>T (8)  R695X  c  ++  +  +  +  8 years  −  VM (mild)  Exotropia 
14

S7 (M, 30 years)  2083C>T (8)  R695X  c  ++  +  +  +  4 years  VSD  WNL  Cryptorchism, esotropia 
14

S8 (M, 26 years)  2083C>T (8)  R695X  c  ++  +  +  +  2 years and 6 months  −  WNL  
14

S9 (M, 27 years)  760insCA (6)  254fs262X  −  ++  +  +  +  2 years  −  WNL  
14

S10 (F, 6 years)  272delG (3)  91fs107X  −  ++  −  +  +  4 years and 8 months  −  HCC (moderate), cortical atrophy, VM (moderate)  
14

S11 (M, 3 years)  2178del2 (8)  727fs754X  c  ++  +  +  +  3 years and 3 months  −  HCC (moderate)  Exotropia 
14

S14 (M, 4 years)  1027C>T (8)  R343X  +  ++  −  +  +  −  ASD, PS  NE  Hypospadias  
S15 (M, 5 years)  1169ins382 (8)  390fs430X  −  ++  +†  +  +  −  −  HCC (mild)   
S18 (F, 44 years)  296del3 (3)  N99del  −  +  −  −  −  1 year and 2 months  −  WNL  
22

S21 (M, 6 years)  2083C>T (8)  R695X  +  ++  +  +  +  −  PDA  NE  Hypospadias  
S24 (F, 11 years)  1395del14ins19 (8)  465fs467X  +  ++  +  +  +  3 years  PDA  WNL   
S28 (M, 10 years)  857delAG (7)  286fs293X  c  ++  +  +  +  6 years  PAS, PDA  ACC  Cryptorchism, stenosis of trachea  
S31 (M, 7 years)  904C>T (7)  R302X  +  ++  +*  +  +  5 years and 2 months  −  Cavum septi pellucidi  Cryptorchism  
S32 (M, 2 years)  2083C>T (8)  R695X  +  ++  +  −  +  −  PDA, VSD  HCC (mild), cortical atrophy, VM (mild)  Cryptorchism, HPS, hypospadias  
S34 (M, 28 years)  1489C>T (8)  Q497X  −  ++  +  −  +  2 years  −  NE   
S38 (F, 3 years)  2083C>T (8)  R695X  +  ++  +*  +  +  −  PDA  WNL  Septum of vagina, HPS, exotropia  