Search results for DYNC1H1

85 hits were found for DYNC1H1

# Family MCID Name MIFTS Score
1
c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 30 7.024
2
c MNT143 Mental Retardation, Autosomal Dominant 13 36 5.496
3
P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 33 5.343
4
P SPN046 Spinal Muscular Atrophy 64 4.265
5
P CHR071 Charcot-Marie-Tooth Disease 64 4.137
6
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 61 4.015
7
P MSC003 Muscular Atrophy 52 3.786
8
TTH006 Tooth Disease 46 3.632
9
P NRP001 Neuropathy 56 3.508
10
P MCR010 Microcephaly 58 3.215
11
P MTR014 Motor Neuron Disease 64 3.151
12
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59 2.582
13
P LSS002 Lissencephaly 51 2.553
14
c AMY091 Amyotrophic Lateral Sclerosis 1 89 2.520
15
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 36 2.520
16
P PRK057 Parkinson Disease, Late-Onset 76 2.481
17
MTR007 Motor Peripheral Neuropathy 40 2.481
18
SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 18 2.022
19
NRN016 Neuronal Migration Disorders 40 1.907
20
GNT176 Genetic Motor Neuron Disease 22 1.845
21
NRM005 Neuromuscular Disease 63 1.754
22
PRR007 Perry Syndrome 54 1.754
23
P BND018 Band Heterotopia 53 1.754
24
c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 43 1.754
25
c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 43 1.754
26
c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41 1.754
27
c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 39 1.754
28
c MNT214 Mental Retardation, Autosomal Dominant 24 39 1.754
29
c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 39 1.754
30
c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 35 1.754
31
CHR391 Chromosome 15q24 Deletion Syndrome 24 1.754
32
OPH001 Ophthalmomyiasis 23 1.754
33
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.850
34
CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 40 0.392
35
P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 26 0.304
36
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 45 0.206
37
P DST101 Distal Hereditary Motor Neuropathies 32 0.186
38
CHR629 Charcot-Marie-Tooth Disease and Deafness 54 0.175
39
ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 14 0.175
40
P DST002 Distal Arthrogryposis 58 0.124
41
VSL002 Visual Epilepsy 58 0.124
42
P FTL069 Fetal Akinesia Deformation Sequence 1 56 0.124
43
c ART144 Arthrogryposis, Distal, Type 1a 54 0.124
44
MSC190 Muscular Disease 51 0.124
45
PLY024 Polymicrogyria 49 0.124
46
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.107
47
WST001 West Syndrome 60 0.107
48
c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 44 0.107
49
PCH002 Pachygyria 31 0.107
50
ACR006 Aceruloplasminemia 73 0.088
51
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 61 0.088
52
P CTR002 Cataract 60 0.088
53
P HDC001 Headache 57 0.088
54
P PLY019 Polyneuropathy 56 0.088
55
BRD001 Brody Myopathy 55 0.088
56
PRP016 Paraplegia 53 0.088
57
SNS003 Sensory Peripheral Neuropathy 53 0.088
58
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.088
59
CRP032 Corpus Callosum, Agenesis of 49 0.088
60
CNT017 Central Nervous System Origin Vertigo 44 0.088
61
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.088
62
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 39 0.088
63
c HRD138 Hereditary Motor and Sensory Neuropathy V 32 0.088
64
CRB215 Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 28 0.088
65
P RSP003 Respiratory Failure 74 0.062
66
c ATS007 Autism Spectrum Disorder 67 0.062
67
c HRD010 Hereditary Spastic Paraplegia 66 0.062
68
P MYP004 Myopathy 64 0.062
69
P MVM001 Movement Disease 61 0.062
70
P ENC018 Encephalopathy 61 0.062
71
P SCL018 Scoliosis 60 0.062
72
c MYP132 Myopathy, Congenital 55 0.062
73
P LTR001 Lateral Sclerosis 53 0.062
74
c LSS005 Lissencephaly 1 53 0.062
75
MLL018 Miller-Dieker Lissencephaly Syndrome 52 0.062
76
CLB002 Clubfoot 47 0.062
77
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 36 0.062
78
SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 32 0.062
79
TBL023 Tubulinopathies 31 0.062
80
CNG065 Congenital Contractures 28 0.062
81
c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 24 0.062
82
c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 23 0.062
83
c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22 0.062
84
c AXN013 Axonal Hereditary Motor and Sensory Neuropathy 13 0.062
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