Search results for startle disease, autosomal recessive

68 hits were found for startle disease, autosomal recessive

# Family MCID Name MIFTS Score
1
c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 24 3.010
2
P EPL164 Epilepsy 65 0.237
3
P HYP097 Hyperekplexia 52 0.208
4
P ATX004 Ataxia 52 0.147
5
SPS057 Spasticity 42 0.139
6
CRB009 Cerebritis 39 0.113
7
NRN002 Neuronitis 39 0.112
8
MYC033 Myoclonus 41 0.106
9
P DYS154 Dystonia 61 0.104
10
P TYS001 Tay-Sachs Disease 70 0.103
11
P SCH015 Schizophrenia 71 0.095
12
P INT063 Intellectual Disability 58 0.092
13
DMN002 Dementia 52 0.092
14
PHY002 Physical Disorder 43 0.087
15
P CRV039 Cervicitis 45 0.085
16
PRP019 Peripheral Nervous System Disease 53 0.085
17
P OBS005 Obesity 91 0.082
18
BRT030 Birth Defects 44 0.082
19
P TRM003 Tremor 53 0.080
20
P ENC018 Encephalopathy 52 0.078
21
JMP002 Jumping Frenchmen of Maine 13 0.075
22
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 51 0.073
23
P ART022 Arthritis 72 0.072
24
STF001 Stiff-Person Syndrome 56 0.068
25
MSC004 Muscle Tissue Disease 37 0.065
26
CRT072 Creutzfeldt-Jakob Disease 62 0.063
27
P MSC033 Muscle Disorders 52 0.063
28
P LNG032 Lung Cancer 94 0.062
29
c HYP519 Hyperekplexia 3 20 0.061
30
NSD001 Nose Disease 49 0.060
31
P RHM011 Rheumatoid Arthritis 87 0.060
32
P MYM002 Moyamoya Disease 60 0.060
33
ASP002 Aspartylglucosaminuria 56 0.059
34
P ENC004 Encephalitis 61 0.059
35
c HYP536 Hyperekplexia 2, Autosomal Recessive 19 0.057
36
ATN002 Autonomic Nervous System Disease 48 0.056
37
CFF002 Coffin-Lowry Syndrome 58 0.055
38
ADT003 Auditory System Disease 41 0.055
39
c CLD010 Cold-Induced Sweating Syndrome 1 34 0.055
40
c GM2005 Gm2-Gangliosidosis, Ab Variant 36 0.054
41
SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 25 0.053
42
c CLD016 Cold-Induced Sweating Syndrome 2 22 0.053
43
c ESS001 Essential Tremor 58 0.051
44
P FRG001 Fragile X Syndrome 67 0.050
45
P PNT019 Pontocerebellar Hypoplasia 38 0.050
46
c PLN024 Peeling Skin Syndrome 4 32 0.049
47
c PSD106 Pseudo-Torch Syndrome 1 42 0.048
48
WLL006 Wells Syndrome 58 0.047
49
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51 0.047
50
RMS001 Rem Sleep Behavior Disorder 40 0.047
51
HYP264 Hypertonia 35 0.046
52
PRC013 Pericarditis 50 0.046
53
P ACR001 Aicardi-Goutieres Syndrome 56 0.045
54
P PLN008 Peeling Skin Syndrome 49 0.045
55
SLT014 Salt and Pepper Developmental Regression Syndrome 33 0.043
56
P EPS003 Episodic Ataxia 54 0.042
57
BRN071 Brain Injury 50 0.042
58
TRM010 Traumatic Brain Injury 51 0.041
59
ASP024 Asparagine Synthetase Deficiency 30 0.040
60
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 28 0.040
61
P CYS018 Cystitis 52 0.040
62
P PRD006 Prader-Willi Syndrome 65 0.039
63
P ATS007 Autism Spectrum Disorder 65 0.039
64
GLY094 Glycine Encephalopathy with Normal Serum Glycine 28 0.039
65
c CLD017 Cold-Induced Sweating Syndrome 3 17 0.038
66
P INT143 Interstitial Cystitis 54 0.038
67
NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 13 0.038
68
P BLP003 Blepharospasm 42 0.037
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