# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
INT517 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
27 |
39.224 |
|
2 |
|
|
INT298 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
18 |
31.911 |
|
3 |
|
c
|
CNG031 |
Congenital Nervous System Abnormality |
32 |
21.898 |
|
4 |
|
P
|
NRV007 |
Nervous System Disease |
67 |
21.898 |
|
5 |
|
c
|
ATS523 |
Autosomal Recessive Intellectual Developmental Disorder |
26 |
19.711 |
|
6 |
|
P
|
MCR010 |
Microcephaly |
59 |
18.035 |
|
7 |
|
c
|
ATS204 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
29 |
14.365 |
|
8 |
|
|
SPN405 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
50 |
12.109 |
|
9 |
|
P
|
SCH015 |
Schizophrenia |
76 |
11.861 |
|
10 |
|
P
|
NRP063 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
66 |
10.905 |
|
11 |
|
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
51 |
9.293 |
|
12 |
|
|
BRK002 |
Birk-Barel Syndrome |
39 |
8.108 |
|
13 |
|
P
|
MRT010 |
Martsolf Syndrome 1 |
53 |
7.711 |
|
14 |
|
c
|
SCK011 |
Seckel Syndrome 5 |
37 |
7.711 |
|
15 |
|
c
|
GNR034 |
Generalized Epilepsy with Febrile Seizures Plus, Type 9 |
33 |
7.711 |
|
16 |
|
|
MYP038 |
Myopathy, Congenital, Compton-North |
35 |
7.711 |
|
17 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
70 |
2.575 |
|
18 |
|
P
|
ATS364 |
Autism |
74 |
2.539 |
|
19 |
|
P
|
SYN057 |
Syndromic Intellectual Disability |
33 |
1.949 |
|
20 |
|
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
1.337 |
|
21 |
|
|
CRB169 |
Cerebellar Atrophy, Developmental Delay, and Seizures |
46 |
1.313 |
|
22 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
66 |
1.288 |
|
23 |
|
|
MST005 |
Mastitis |
53 |
1.288 |
|
24 |
|
|
SPN209 |
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations |
69 |
1.204 |
|
25 |
|
P
|
FRG001 |
Fragile X Syndrome |
69 |
1.204 |
|