# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
NRD014 |
Neurodegeneration with Brain Iron Accumulation 4 |
45 |
21.111 |
|
2 |
|
|
MTC036 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
25 |
11.233 |
|
3 |
|
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
39 |
6.698 |
|
4 |
|
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
52 |
4.997 |
|
5 |
|
P
|
DYS154 |
Dystonia |
65 |
4.393 |
|
6 |
|
|
PRP016 |
Paraplegia |
52 |
4.278 |
|
7 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
3.896 |
|
8 |
|
P
|
TRM003 |
Tremor |
54 |
2.833 |
|
9 |
|
P
|
AXN001 |
Axonal Neuropathy |
36 |
2.772 |
|
10 |
|
|
BHR001 |
Behr Syndrome |
51 |
2.697 |
|
11 |
|
|
CHR105 |
Choreoacanthocytosis |
57 |
2.650 |
|
12 |
|
c
|
NRD008 |
Neurodegeneration with Brain Iron Accumulation 3 |
52 |
2.650 |
|
13 |
|
c
|
NRD017 |
Neurodegeneration with Brain Iron Accumulation 1 |
61 |
1.982 |
|
14 |
|
P
|
OPT006 |
Optic Nerve Disease |
60 |
1.935 |
|
15 |
|
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
36 |
1.935 |
|
16 |
|
P
|
BRW001 |
Brown-Vialetto-Van Laere Syndrome |
33 |
1.935 |
|
17 |
|
|
ALC002 |
Alcohol-Related Neurodevelopmental Disorder |
30 |
1.935 |
|
18 |
|
c
|
SPS039 |
Spastic Paraplegia 5a |
23 |
1.935 |
|
19 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
1.874 |
|
20 |
|
|
ACR006 |
Aceruloplasminemia |
65 |
1.874 |
|
21 |
|
|
KFR001 |
Kufor-Rakeb Syndrome |
60 |
1.874 |
|
22 |
|
c
|
SPS153 |
Spastic Paraplegia 35, Autosomal Recessive |
57 |
1.874 |
|
23 |
|
c
|
NRD016 |
Neurodegeneration with Brain Iron Accumulation 6 |
51 |
1.874 |
|
24 |
|
c
|
NRD032 |
Neurodegeneration with Brain Iron Accumulation 5 |
51 |
1.874 |
|
25 |
|
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
51 |
1.874 |
|
26 |
|
c
|
NRD009 |
Neurodegeneration with Brain Iron Accumulation 2b |
41 |
1.874 |
|
27 |
|
|
ORM002 |
Oromandibular Dystonia |
39 |
1.874 |
|
28 |
|
c
|
ERL056 |
Early-Onset Parkinson's Disease |
39 |
1.874 |
|
29 |
|
|
NRX001 |
Neuroaxonal Dystrophy |
35 |
1.874 |
|
30 |
|
P
|
3MT016 |
3-Methylglutaconic Aciduria, Type Iii |
67 |
0.148 |
|
31 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
0.128 |
|
32 |
|
P
|
LTR001 |
Lateral Sclerosis |
54 |
0.128 |
|
33 |
|
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
44 |
0.128 |
|
34 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.105 |
|
35 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
0.074 |
|
36 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
0.074 |
|
37 |
|
P
|
MTR014 |
Motor Neuron Disease |
65 |
0.074 |
|
38 |
|
P
|
MVM001 |
Movement Disease |
63 |
0.074 |
|
39 |
|
c
|
OPT053 |
Optic Atrophy 1 |
63 |
0.074 |
|
40 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.074 |
|
41 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.074 |
|
42 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.074 |
|
43 |
|
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
47 |
0.074 |
|
44 |
|
|
RTN023 |
Retinitis |
46 |
0.074 |
|
45 |
|
c
|
OPT068 |
Optic Atrophy 3, Autosomal Dominant |
46 |
0.074 |
|
46 |
|
|
SPS057 |
Spasticity |
45 |
0.074 |
|
47 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.074 |
|
48 |
|
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
42 |
0.074 |
|
49 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.074 |
|
50 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
29 |
0.074 |
|
51 |
|
c
|
SPS038 |
Spastic Paraplegia 39 |
14 |
0.074 |
|