| 例数 | 年龄 | 身高 | 核苷酸改变 | 氨基酸改变 | 短手短脚 | 心脏瓣膜病变 | 呼吸功能不全 | 肝肿大 |
| 本例 | 10.9 | 112.4 cm (−5.01SD) | c.5284G>A | p.Gly1762Ser | + | + | - | - |
| 1 | 9岁死亡 | 80 cm (<−6SD) | c.5087A>G | p.Tyr1696Cys | + | + | + | - |
| 2 [5] | 18 | 112 cm (<−6SD) | c.5096A>G | p.Tyr1699Cys | + | + | + | + |
| 3 [5] | 12 | 106 cm (<−6SD) | c.5284G>A | p.Gly1762Ser | + | - | - | + |
| 4 [5] | 21 | 116 cm (<−6SD) | c.5096A>G | p.Tyr1699Cys | + | + | - | - |
| 5 [5] | 8 | 103.5 cm (−4SD) | c.5284G>A | p.Gly1762Ser | + | - | - | - |
| 6 [5] | 5.7 | 97 cm (−4SD) | c.5284G>A | p.Gly1762Ser | + | - | + | - |
| 7 [5] | 3岁死亡 | 75 cm (−5SD) | c.5087A>G | p.Tyr1696Cys | + | - | + | - |
| 8 [5] | 4.5 | 85 cm (−4SD) | c.5096A>G | p.Tyr1699Cys | + | + | + | + |
| 9 [5] | 4岁死亡 | 60 cm (<−6SD) | c.5117G>A | p.Cys1706Tyr | + | + | + | - |
| 10 [5] | 14 | 133 cm (−3.5SD) | c.5157C>G | p.Cys1719Trp | + | - | - | - |
| 11 [5] | ？ | ？ | c.5096A>G | p.Tyr1699Cys | + | - | - | - |
| 12 [5] | 3 | 85 cm (−3SD) | c.5284G>A | p.Gly1762Ser | + | - | - | - |
| 13 [5] | 18 | 134 cm (−4SD) | c.5284G>A | p.Gly1762Ser | + | + | - | - |
| 14 [5] | 11 | 92 cm (<−6SD) | c.5182G>A | p.Ala1728Thr | + | + | - | + |
| 15 [5] | ？ | ？ | c.5183C>T | p.Ala1728Val | + | + | - | - |
| 16 [5] | 9 | 98 cm (−6SD) | c.5095T>G | p.Tyr1699Asp | + | - | - | - |
| 17 [5] | 3 | 76 cm (−4SD) | c.5198G>A | p.Cys1733Tyr | + | - | - | + |
| 18 [5] | ？ | ？ | c.5284G>A | p.Gly1762Ser | + | / | - | - |
| 19 [5] | 7 | 88 cm (−6SD) | c.5096A>G | p.Tyr1699Cys | + | + | - | - |
| 20 [10] | 9.5 | 104.4 cm (<4SD)/6.6y | c.5284G>A | p.Gly1762Ser | + | + | - | - |
| 21 [10] | 59 | 131.6 cm (−5.4SD) | c.5284G>A | p.Gly1762Ser | + | / | - | - |
| 22 [10] | 2.8 | 80 cm (−3.42SD) | c.5284G>A | p.Gly1762Ser | + | / | - | - |
| 23 [10] | 7.5 | 100.5 cm (−3.84SD) | c.5284G>A | p.Gly1762Ser | + | + | + | + |
| 24 [10] | 36 | 146.8 cm (<−4SD) | c.5284G>A | p.Gly1762Ser | + | / | - | - |
| 25 [10] | 2.8 | 81 cm (−3.65SD) | c.5284G>A | p.Gly1762Ser | + | + | - | - |
| 26 [11] | 5 | 92.9 cm (−3.9SD) | c.5284G>A | p.Gly1762Ser | + | + | - | + |
| 27 [11] | 6 | 78.2 cm (5.4SD)/3.8y | c.5096G>A | p.Tyr1699Cys | + | + | - | + |
| 28 [12] | 18 | 144.5 cm (−4.5SD) | c.5183C>T | p.Ala1728Val | + | + | - | - |
| 29 [12] | 7 | 107.5 cm (−4SD) | c.5183C>T | p.Ala1728Val | + | + | - | - |
| 30 [13] | 11 | 95.8 cm (−9SD) | c.5198G>A | p.Cys1733Tyr | + | - | - | + |
| 31 [13] | 3.8 | 79.5 cm (−5SD) | c.5198A>T | p.Asn1730Leu | + | - | - | + |
| 32 [14] | 10 | 80 cm (−8.75SD) | c.5161T>G | p.Cys1726Gly | + | + | + | + |