| # |
|
Family |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
|
XGB001 |
Xia-Gibbs Syndrome |
41 |
86.805 |
|
| 2 |
|
|
HYP265 |
Hypotonia |
46 |
26.286 |
|
|
| 3 |
|
P
|
SLP006 |
Sleep Apnea |
69 |
26.041 |
|
|
| 4 |
|
P
|
NNN008 |
Noonan Syndrome 1 |
76 |
10.738 |
|
|
| 5 |
|
P
|
LRY029 |
Laryngomalacia |
49 |
9.223 |
|
|
| 6 |
|
|
CRB215 |
Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay |
37 |
9.207 |
|
|
| 7 |
|
c
|
ABD013 |
Abdominal Obesity-Metabolic Syndrome 3 |
38 |
9.207 |
|
|
| 8 |
|
P
|
ATS522 |
Autosomal Dominant Intellectual Developmental Disorder |
31 |
8.526 |
|
|
| 9 |
|
c
|
CRD184 |
Ceroid Lipofuscinosis, Neuronal, 5 |
59 |
7.593 |
|
|
| 10 |
|
c
|
CRB101 |
Cerebrooculofacioskeletal Syndrome 1 |
56 |
7.593 |
|
|
| 11 |
|
|
MNK003 |
Muenke Syndrome |
59 |
7.593 |
|
|
| 12 |
|
|
BNB002 |
Bainbridge-Ropers Syndrome |
50 |
7.593 |
|
|
| 13 |
|
|
CHR222 |
Chromosome 1p36 Deletion Syndrome |
48 |
7.593 |
|
|
| 14 |
|
c
|
THY071 |
Thyroid Dyshormonogenesis 1 |
36 |
7.593 |
|
|
| 15 |
|
c
|
FBR030 |
Fibrochondrogenesis 2 |
39 |
7.593 |
|
|
| 16 |
|
|
WHT019 |
White-Sutton Syndrome |
46 |
7.593 |
|
|
| 17 |
|
|
CNG501 |
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder |
44 |
7.593 |
|
|
| 18 |
|
|
APN008 |
Apnea, Obstructive Sleep |
68 |
2.063 |
|
|
| 19 |
|
P
|
SPS008 |
Spastic Ataxia |
45 |
1.614 |
|
|
| 20 |
|
P
|
CNT116 |
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a |
54 |
1.453 |
|
|
| 21 |
|
|
CRB169 |
Cerebellar Atrophy, Developmental Delay, and Seizures |
46 |
1.259 |
|
|
| 22 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
1.247 |
|
|
| 23 |
|
|
IRN008 |
Iron Overload in Africa |
54 |
1.247 |
|
|
| 24 |
|
c
|
TYR012 |
Tyrosinemia, Type I |
67 |
1.247 |
|
|
| 25 |
|
c
|
HPT073 |
Hepatitis C Virus |
70 |
1.247 |
|
|
