| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
P
|
TTR001 |
Tetralogy of Fallot |
70 |
30.241 |
|
| 2 |
|
c
|
46X030 |
46,xy Sex Reversal 9 |
44 |
28.332 |
|
|
| 3 |
|
c
|
DPH016 |
Diaphragmatic Hernia 3 |
24 |
21.027 |
|
|
| 4 |
|
|
DBL002 |
Double Outlet Right Ventricle |
61 |
20.243 |
|
|
| 5 |
|
|
CNT061 |
Conotruncal Heart Malformations |
65 |
15.106 |
|
|
| 6 |
|
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
66 |
15.106 |
|
|
| 7 |
|
|
TRC062 |
Tricuspid Atresia |
54 |
9.924 |
|
|
| 8 |
|
P
|
VNT002 |
Ventricular Septal Defect |
58 |
9.924 |
|
|
| 9 |
|
P
|
DSR090 |
Disorder of Sexual Development |
52 |
9.924 |
|
|
| 10 |
|
P
|
GND004 |
Gonadal Dysgenesis |
48 |
9.924 |
|
|
| 11 |
|
c
|
46X082 |
46,xy Sex Reversal |
50 |
9.924 |
|
|
| 12 |
|
|
46X012 |
46,xy Partial Gonadal Dysgenesis |
42 |
8.088 |
|
|
| 13 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
60 |
7.018 |
|
|
| 14 |
|
|
EBS001 |
Ebstein Anomaly |
57 |
7.018 |
|
|
| 15 |
|
|
WLF002 |
Wolf-Hirschhorn Syndrome |
52 |
7.018 |
|
|
| 16 |
|
c
|
TRC091 |
Trichorhinophalangeal Syndrome, Type Ii |
52 |
7.018 |
|
|
| 17 |
|
|
CRN048 |
Craniofacial-Deafness-Hand Syndrome |
48 |
7.018 |
|
|
| 18 |
|
|
DNN002 |
Donnai-Barrow Syndrome |
57 |
7.018 |
|
|
| 19 |
|
P
|
PTN014 |
Patent Ductus Arteriosus 1 |
59 |
7.018 |
|
|
| 20 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
33 |
7.018 |
|
|
| 21 |
|
P
|
ATR001 |
Atrioventricular Septal Defect |
56 |
7.018 |
|
|
| 22 |
|
|
HYP666 |
Hypoparathyroidism-Deafness-Renal Disease Syndrome |
37 |
7.018 |
|
|
| 23 |
|
|
45X001 |
45,x/46,xy Mixed Gonadal Dysgenesis |
37 |
7.018 |
|
|
| 24 |
|
P
|
ATR010 |
Atrial Heart Septal Defect |
58 |
7.018 |
|
|
| 25 |
|
|
DPH006 |
Diaphragmatic Eventration |
35 |
7.018 |
|
|
