# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
JBR041 |
Joubert Syndrome 3 |
53 |
6.211 |
|
2 |
|
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
5.188 |
|
3 |
|
c
|
INH030 |
Inherited Retinal Disorder |
51 |
4.022 |
|
4 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
3.776 |
|
5 |
|
|
FND002 |
Fundus Dystrophy |
55 |
2.788 |
|
6 |
|
P
|
KDN018 |
Kidney Disease |
72 |
2.761 |
|
7 |
|
|
APR001 |
Apraxia |
52 |
2.761 |
|
8 |
|
P
|
NPH005 |
Nephronophthisis |
59 |
2.388 |
|
9 |
|
c
|
NPH019 |
Nephronophthisis 1 |
50 |
2.388 |
|
10 |
|
|
LBR036 |
Leber Plus Disease |
66 |
2.369 |
|
11 |
|
|
OCL015 |
Oculomotor Apraxia |
37 |
2.306 |
|
12 |
|
P
|
SCH015 |
Schizophrenia |
74 |
2.254 |
|
13 |
|
P
|
ATS364 |
Autism |
70 |
2.224 |
|
14 |
|
P
|
MCK013 |
Meckel Syndrome, Type 1 |
65 |
2.224 |
|
15 |
|
P
|
STR020 |
Strabismus |
55 |
2.187 |
|
16 |
|
P
|
PTS002 |
Ptosis |
53 |
2.187 |
|
17 |
|
P
|
CYS039 |
Cystic Kidney Disease |
54 |
1.662 |
|
18 |
|
P
|
SNR003 |
Senior-Loken Syndrome 1 |
56 |
1.631 |
|
19 |
|
c
|
CNG513 |
Congenital Ptosis |
42 |
1.631 |
|
20 |
|
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
1.594 |
|
21 |
|
|
CLB010 |
Coloboma of Macula |
52 |
1.594 |
|
22 |
|
c
|
JBR018 |
Joubert Syndrome 4 |
51 |
1.594 |
|
23 |
|
c
|
MCK032 |
Meckel Syndrome, Type 3 |
50 |
1.594 |
|
24 |
|
c
|
JBR012 |
Joubert Syndrome 5 |
47 |
1.594 |
|
25 |
|
|
ACR008 |
Acrocallosal Syndrome |
69 |
1.546 |
|
26 |
|
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
1.546 |
|
27 |
|
c
|
FML346 |
Familial Adenomatous Polyposis 1 |
66 |
1.546 |
|
28 |
|
|
APN008 |
Apnea, Obstructive Sleep |
64 |
1.546 |
|
29 |
|
P
|
PLY170 |
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease |
64 |
1.546 |
|
30 |
|
P
|
CRN108 |
Cranioectodermal Dysplasia 1 |
62 |
1.546 |
|
31 |
|
|
BLD131 |
Bladder Urothelial Carcinoma |
62 |
1.546 |
|
32 |
|
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
61 |
1.546 |
|
33 |
|
P
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
60 |
1.546 |
|
34 |
|
|
CCH002 |
Coach Syndrome |
55 |
1.546 |
|
35 |
|
c
|
ORF034 |
Orofaciodigital Syndrome Vi |
55 |
1.546 |
|
36 |
|
P
|
VSC013 |
Visceral Heterotaxy |
52 |
1.546 |
|
37 |
|
|
PTH003 |
Pathologic Nystagmus |
52 |
1.546 |
|
38 |
|
c
|
NPH030 |
Nephronophthisis 2 |
50 |
1.546 |
|
39 |
|
|
KRT010 |
Kartagener Syndrome |
50 |
1.546 |
|
40 |
|
|
CGN006 |
Cogan Syndrome |
48 |
1.546 |
|
41 |
|
c
|
JBR004 |
Joubert Syndrome 2 |
48 |
1.546 |
|
42 |
|
c
|
JBR011 |
Joubert Syndrome 7 |
46 |
1.546 |
|
43 |
|
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
1.546 |
|
44 |
|
c
|
JBR015 |
Joubert Syndrome 6 |
45 |
1.546 |
|
45 |
|
c
|
NPH035 |
Nephronophthisis 9 |
44 |
1.546 |
|
46 |
|
c
|
JBR014 |
Joubert Syndrome 9 |
43 |
1.546 |
|
47 |
|
c
|
JBR013 |
Joubert Syndrome 8 |
42 |
1.546 |
|
48 |
|
c
|
JBR028 |
Joubert Syndrome 13 |
42 |
1.546 |
|
49 |
|
c
|
JBR016 |
Joubert Syndrome 10 |
41 |
1.546 |
|
50 |
|
|
ADN067 |
Adenoid Hypertrophy |
39 |
1.546 |
|
51 |
|
c
|
NPH077 |
Nephronophthisis 19 |
38 |
1.546 |
|
52 |
|
P
|
CNG048 |
Congenital Hepatic Fibrosis |
38 |
1.546 |
|
53 |
|
|
MXD044 |
Mixed Sleep Apnea |
23 |
1.546 |
|
54 |
|
|
CLP005 |
Ciliopathy |
43 |
0.199 |
|
55 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.163 |
|
56 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.141 |
|
57 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.129 |
|
58 |
|
P
|
RTN016 |
Retinal Degeneration |
53 |
0.115 |
|
59 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
0.081 |
|
60 |
|
P
|
PLY006 |
Polydactyly |
59 |
0.081 |
|
61 |
|
|
EYD002 |
Eye Disease |
58 |
0.081 |
|
62 |
|
P
|
RTN018 |
Retinal Disease |
53 |
0.081 |
|
63 |
|
|
OCL069 |
Ocular Motor Apraxia |
51 |
0.081 |
|
64 |
|
|
PLY024 |
Polymicrogyria |
49 |
0.081 |
|
65 |
|
P
|
ENC008 |
Encephalocele |
47 |
0.081 |
|
66 |
|
|
RTN023 |
Retinitis |
46 |
0.081 |
|
67 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.081 |
|
68 |
|
|
PLY183 |
Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome |
41 |
0.081 |
|
69 |
|
P
|
CRB045 |
Cerebellar Hypoplasia |
41 |
0.081 |
|
70 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.058 |
|
71 |
|
c
|
LKM063 |
Leukemia, Chronic Myeloid |
72 |
0.058 |
|
72 |
|
|
PSY004 |
Psychotic Disorder |
67 |
0.058 |
|
73 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
0.058 |
|
74 |
|
|
MYC006 |
Mycosis Fungoides |
66 |
0.058 |
|
75 |
|
c
|
PLY168 |
Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease |
66 |
0.058 |
|
76 |
|
P
|
HYD006 |
Hydrocephalus |
66 |
0.058 |
|
77 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.058 |
|
78 |
|
|
ATX029 |
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia |
65 |
0.058 |
|
79 |
|
c
|
ATS347 |
Autosomal Dominant Polycystic Kidney Disease |
65 |
0.058 |
|
80 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
0.058 |
|
81 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
0.058 |
|
82 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.058 |
|
83 |
|
|
SZR001 |
Sezary's Disease |
60 |
0.058 |
|
84 |
|
P
|
SCL018 |
Scoliosis |
60 |
0.058 |
|
85 |
|
c
|
ORF037 |
Orofaciodigital Syndrome I |
60 |
0.058 |
|
|
87 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
0.058 |
|
88 |
|
|
ABL002 |
Ablepharon-Macrostomia Syndrome |
53 |
0.058 |
|
89 |
|
P
|
MRR011 |
Mirror Movements 1 |
51 |
0.058 |
|
90 |
|
|
RNL078 |
Renal Dysplasia |
50 |
0.058 |
|
91 |
|
P
|
CTN015 |
Cutaneous T Cell Lymphoma |
49 |
0.058 |
|
92 |
|
c
|
CNG216 |
Congenital Hydrocephalus |
47 |
0.058 |
|
93 |
|
c
|
KNB006 |
Knobloch Syndrome 1 |
46 |
0.058 |
|
94 |
|
|
ARM010 |
Arima Syndrome |
46 |
0.058 |
|
95 |
|
|
IMM003 |
Immunoglobulin Alpha Deficiency |
45 |
0.058 |
|
96 |
|
|
STS002 |
Situs Inversus |
45 |
0.058 |
|
97 |
|
|
CRB027 |
Cerebellar Disease |
44 |
0.058 |
|
98 |
|
|
IMM154 |
Immunoglobulin a Deficiency 1 |
42 |
0.058 |
|
99 |
|
|
ATX019 |
Ataxia with Vitamin E Deficiency |
42 |
0.058 |
|
100 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
0.058 |
|
101 |
|
|
CRP033 |
Corpus Callosum, Agenesis of, with Abnormal Genitalia |
39 |
0.058 |
|
102 |
|
|
DXT002 |
Dextrocardia with Situs Inversus |
39 |
0.058 |
|
103 |
|
c
|
JVN041 |
Juvenile Nephronophthisis |
39 |
0.058 |
|
104 |
|
|
RHY001 |
Rhyns Syndrome |
38 |
0.058 |
|
105 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
0.058 |
|
106 |
|
|
PDT025 |
Pediatric Multiple Sclerosis |
36 |
0.058 |
|
107 |
|
|
ALK023 |
Al Kaissi Syndrome |
30 |
0.058 |
|
108 |
|
|
PLY110 |
Polymicrogyria, Bilateral Temporooccipital |
25 |
0.058 |
|
109 |
|
|
SYN149 |
Syndromic Rod-Cone Dystrophy |
22 |
0.058 |
|
110 |
|
|
MLF009 |
Malformation of the Cerebellar Vermis |
5 |
0.058 |
|