| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
|
BRT042 |
Bartter Syndrome, Type 3 |
48 |
51.301 |
|
| 2 |
|
|
GTL001 |
Gitelman Syndrome |
66 |
26.037 |
|
|
| 3 |
|
|
BRT056 |
Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness |
42 |
23.720 |
|
|
| 4 |
|
P
|
BRT053 |
Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness |
50 |
18.177 |
|
|
| 5 |
|
P
|
BRT004 |
Bartter Disease |
57 |
16.980 |
|
|
| 6 |
|
|
CNN003 |
Conn's Syndrome |
83 |
16.052 |
|
|
| 7 |
|
|
HYP005 |
Hypokalemia |
56 |
15.276 |
|
|
| 8 |
|
|
NPH003 |
Nephrocalcinosis |
48 |
15.230 |
|
|
| 9 |
|
|
NPH009 |
Nephrolithiasis |
54 |
14.060 |
|
|
| 10 |
|
c
|
HYP595 |
Hypertension, Essential |
86 |
12.497 |
|
|
| 11 |
|
|
PLY012 |
Polyhydramnios |
47 |
11.640 |
|
|
| 12 |
|
P
|
DBT005 |
Diabetes Insipidus |
55 |
10.627 |
|
|
| 13 |
|
P
|
DNT020 |
Dent Disease 1 |
63 |
10.373 |
|
|
| 14 |
|
P
|
EPL196 |
Epilepsy, Familial Focal, with Variable Foci 1 |
46 |
9.216 |
|
|
| 15 |
|
P
|
BRT050 |
Bartter Syndrome, Type 2, Antenatal |
51 |
8.574 |
|
|
| 16 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
59 |
8.491 |
|
|
| 17 |
|
c
|
BRT052 |
Bartter Syndrome, Type 1, Antenatal |
47 |
8.419 |
|
|
| 18 |
|
P
|
NPH007 |
Nephrogenic Diabetes Insipidus |
61 |
7.604 |
|
|
| 19 |
|
|
DBT087 |
Diabetes Insipidus, Neurohypophyseal |
57 |
7.493 |
|
|
| 20 |
|
P
|
LDD007 |
Liddle Syndrome 1 |
59 |
7.380 |
|
|
| 21 |
|
c
|
DFN240 |
Deafness, Autosomal Recessive 96 |
24 |
7.380 |
|
|
| 22 |
|
c
|
ART120 |
Arthrogryposis, Distal, Type 3 |
55 |
7.225 |
|
|
| 23 |
|
|
DRR008 |
Diarrhea 1, Secretory Chloride, Congenital |
44 |
7.225 |
|
|
| 24 |
|
|
SZR026 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance |
53 |
7.225 |
|
|
| 25 |
|
P
|
MYT023 |
Myotonia Congenita |
57 |
7.225 |
|
|
