Search results for startle disease, autosomal recessive

68 hits were found for startle disease, autosomal recessive

# Family MCID Name MIFTS Score
1
c HYP757 Hyperekplexia, Hereditary 1 26 4.216
2
P EPL164 Epilepsy 70 0.243
3
P HYP097 Hyperekplexia 57 0.209
4
P ANR048 Aniridia 1 68 0.154
5
ANR038 Anorexia Nervosa 1 21 0.152
6
BLD137 Blood Group--Ahonen 17 0.152
7
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.150
8
AGN016 Aging 65 0.146
9
SPS057 Spasticity 41 0.143
10
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.138
11
NRN002 Neuronitis 43 0.124
12
CRB009 Cerebritis 41 0.119
13
P DYS154 Dystonia 61 0.109
14
MYC033 Myoclonus 40 0.109
15
P ENC018 Encephalopathy 58 0.109
16
ANX010 Anxiety 72 0.107
17
DMN002 Dementia 68 0.101
18
P SCH015 Schizophrenia 71 0.101
19
P TYS001 Tay-Sachs Disease 71 0.096
20
JMP002 Jumping Frenchmen of Maine 19 0.094
21
P CRV039 Cervicitis 49 0.094
22
P TRM003 Tremor 54 0.086
23
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.081
24
SND001 Sandhoff Disease 65 0.081
25
P ART022 Arthritis 77 0.076
26
c GM2005 Gm2-Gangliosidosis, Ab Variant 39 0.072
27
STF001 Stiff-Person Syndrome 61 0.068
28
P HYP265 Hypotonia 40 0.067
29
P RHM011 Rheumatoid Arthritis 91 0.065
30
SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 34 0.063
31
c HYP519 Hyperekplexia 3 17 0.062
32
DWN001 Down Syndrome 70 0.062
33
P MYM013 Moyamoya Disease 1 50 0.062
34
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.061
35
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.061
36
P ENC004 Encephalitis 66 0.061
37
ASP002 Aspartylglucosaminuria 57 0.060
38
P LNG032 Lung Cancer 99 0.058
39
c CLD010 Cold-Induced Sweating Syndrome 1 47 0.056
40
c HYP510 Hyperekplexia 2 17 0.055
41
CFF002 Coffin-Lowry Syndrome 58 0.055
42
c CLD016 Cold-Induced Sweating Syndrome 2 24 0.054
43
GLY094 Glycine Encephalopathy with Normal Serum Glycine 33 0.054
44
c ESS001 Essential Tremor 58 0.053
45
P SPR120 Supranuclear Palsy, Progressive, 1 70 0.053
46
P ATS364 Autism 70 0.051
47
P PNT019 Pontocerebellar Hypoplasia 41 0.051
48
CRN264 Craniosynostosis with Fibular Aplasia 29 0.050
49
HYP745 Hyperreflexia 36 0.050
50
RMS001 Rem Sleep Behavior Disorder 42 0.048
51
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57 0.047
52
SLT014 Salt and Pepper Developmental Regression Syndrome 37 0.047
53
c PSD106 Pseudo-Torch Syndrome 1 46 0.047
54
P ACR001 Aicardi-Goutieres Syndrome 57 0.047
55
GLS018 Glass Syndrome 38 0.046
56
HYP264 Hypertonia 32 0.046
57
c EPL209 Epilepsy, Idiopathic Generalized 10 55 0.045
58
c PNT034 Pontocerebellar Hypoplasia, Type 2e 41 0.045
59
c ATS007 Autism Spectrum Disorder 68 0.044
60
P TRN020 Turner Syndrome 69 0.044
61
P CYS018 Cystitis 57 0.042
62
c CLD017 Cold-Induced Sweating Syndrome 3 19 0.041
63
P INT143 Interstitial Cystitis 63 0.041
64
ASP024 Asparagine Synthetase Deficiency 31 0.041
65
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27 0.041
66
NVS017 Nevus, Epidermal 66 0.040
67
NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 17 0.040
68
P PRD006 Prader-Willi Syndrome 66 0.040
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