Search results for iqsec2

165 hits were found for iqsec2

# Family MCID Name MIFTS Score
1
P NNS032 Non-Syndromic X-Linked Intellectual Disability 46 51.248
2
IQS001 Iqsec2 19 45.579
3
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 34.865
4
DSS008 Disease of Mental Health 74 22.300
5
P ATS364 Autism 72 19.239
6
SVR093 Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome 12 17.911
7
c ATS007 Autism Spectrum Disorder 72 17.592
8
SMT008 Smith-Magenis Syndrome 53 16.004
9
P MCR010 Microcephaly 59 14.419
10
P SYN057 Syndromic Intellectual Disability 37 12.706
11
c NNS083 Non-Syndromic X-Linked Intellectual Disability 1 14 12.663
12
c SYN064 Syndromic X-Linked Intellectual Disability 25 11.780
13
LRN003 Learning Disability 49 11.231
14
LNN001 Lennox-Gastaut Syndrome 61 8.962
15
WST001 West Syndrome 64 8.902
16
P NNS031 Non-Syndromic Intellectual Disability 32 8.739
17
SPC031 Specific Learning Disability 36 8.658
18
P PTT014 Pitt-Hopkins Syndrome 63 8.329
19
CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 21 8.022
20
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 48 7.835
21
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 40 7.835
22
P ERL057 Early Infantile Epileptic Encephalopathy 61 7.454
23
BRX001 Bruxism 51 7.334
24
MTC207 Mitochondrial Complex Ii Deficiency, Nuclear Type 1 57 7.126
25
ACR012 Aicardi Syndrome 46 7.126
26
CHR704 Chromosome 16p11.2 Deletion Syndrome 35 7.126
27
P SYN078 Syndromic X-Linked Intellectual Disability Type 10 26 7.126
28
c ATR065 Atrial Septal Defect 8 33 7.126
29
P CRN015 Cornelia De Lange Syndrome 67 7.126
30
OPT054 Opitz-Kaveggia Syndrome 52 7.126
31
P BRN030 Brain Ependymoma 18 7.126
32
THY003 Thymic Dysplasia 22 7.126
33
P SZR006 Seizure Disorder 69 3.814
34
P EPL164 Epilepsy 70 3.374
35
P HYP265 Hypotonia 42 3.348
36
P ENC018 Encephalopathy 62 3.123
37
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 2.611
38
P STR020 Strabismus 56 2.593
39
MCH006 Mechanical Strabismus 40 2.593
40
PLG004 Plagiocephaly 40 2.322
41
P RTT002 Rett Syndrome 79 2.053
42
P ATT013 Attention Deficit-Hyperactivity Disorder 66 1.573
43
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.179
44
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.179
45
P SCL018 Scoliosis 57 1.179
46
CRT012 Cortical Blindness 42 1.179
47
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 1.091
48
LNG019 Lung Combined Type Small Cell Carcinoma 32 1.091
49
P LNG021 Lung Occult Small Cell Carcinoma 20 1.091
50
CNS004 Constipation 56 1.032
51
P FRG001 Fragile X Syndrome 70 0.963
52
SPS057 Spasticity 43 0.946
53
CLF027 Cleft Palate, Isolated 64 0.917
54
c RTN041 Retinitis Pigmentosa 11 43 0.917
55
CLF001 Cleft Lip 54 0.917
56
P GST053 Gastric Cancer 82 0.856
57
c DVL033 Developmental and Epileptic Encephalopathy 1 49 0.709
58
LPD016 Lipoid Proteinosis of Urbach and Wiethe 50 0.709
59
LYM004 Lymphoid Interstitial Pneumonia 49 0.709
60
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.709
61
VSL002 Visual Epilepsy 39 0.709
62
MNT002 Mental Depression 56 0.709
63
DPR016 Depression 65 0.709
64
CDK006 Cdkl5 Deficiency Disorder 30 0.709
65
EST005 Esotropia 42 0.709
66
P BRS047 Breast Cancer 97 0.573
67
P PNC035 Pancreatic Cancer 86 0.573
68
UND011 Undetermined Early-Onset Epileptic Encephalopathy 46 0.415
69
P DVL113 Developmental and Epileptic Encephalopathy 45 0.293
70
OHT001 Ohtahara Syndrome 39 0.293
71
c DVL058 Developmental and Epileptic Encephalopathy 32 27 0.254
72
c DVL067 Developmental and Epileptic Encephalopathy 42 34 0.254
73
DRV001 Dravet Syndrome 70 0.254
75
STX004 Stxbp1 Encephalopathy with Epilepsy 14 0.254
76
c DVL078 Developmental and Epileptic Encephalopathy 54 26 0.207
77
NRN005 Neuronal Ceroid-Lipofuscinoses 61 0.207
78
c DVL052 Developmental and Epileptic Encephalopathy 26 37 0.207
79
CHR174 Christianson Syndrome 47 0.207
80
c DVL066 Developmental and Epileptic Encephalopathy 41 25 0.207
81
c DVL068 Developmental and Epileptic Encephalopathy 43 24 0.207
82
c DVL041 Developmental and Epileptic Encephalopathy 13 43 0.207
83
P MNT185 Mental Retardation, Autosomal Dominant 7 44 0.207
84
INT369 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 25 0.207
85
c DVL035 Developmental and Epileptic Encephalopathy 4 38 0.207
86
c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 34 0.207
87
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.207
88
STX005 Stxbp1 Encephalopathy 23 0.207
89
DYR003 Dyrk1a Syndrome 31 0.207
92
c EPS035 Episodic Ataxia, Type 2 63 0.147
93
MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 35 0.147
94
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 58 0.147
95
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56 0.147
96
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 57 0.147
97
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 0.147
98
c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 54 0.147
99
c EPL200 Epilepsy, Childhood Absence 1 30 0.147
100
c PNT036 Pontocerebellar Hypoplasia, Type 6 46 0.147
101
MCR096 Macrocephaly/autism Syndrome 44 0.147
102
c DVL057 Developmental and Epileptic Encephalopathy 31 31 0.147
103
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 30 0.147
104
c DVL070 Developmental and Epileptic Encephalopathy 45 23 0.147
105
NRD091 Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures 28 0.147
106
NRD059 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 24 0.147
107
c DVL059 Developmental and Epileptic Encephalopathy 33 34 0.147
108
c DVL080 Developmental and Epileptic Encephalopathy 56 25 0.147
109
c DVL091 Developmental and Epileptic Encephalopathy 67 26 0.147
110
SCH074 Schuurs-Hoeijmakers Syndrome 48 0.147
111
RSP023 Rasopathy 54 0.147
112
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 0.147
113
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 0.147
114
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 52 0.147
115
SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 34 0.147
116
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 0.147
117
EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 30 0.147
118
GLT019 Glut1 Deficiency Syndrome 2 38 0.147
119
KBG001 Kbg Syndrome 54 0.147
120
P ANG001 Angelman Syndrome 65 0.147
121
c CWD006 Cowden Syndrome 1 79 0.147
122
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55 0.147
123
CMB044 Combined Oxidative Phosphorylation Deficiency 14 31 0.147
124
c DVL042 Developmental and Epileptic Encephalopathy 14 52 0.147
125
c CLR094 Ciliary Dyskinesia, Primary, 28 32 0.147
126
c DVL038 Developmental and Epileptic Encephalopathy 7 48 0.147
127
RTT008 Rett Syndrome, Congenital Variant 33 0.147
128
P CNG436 Congenital Disorder of Deglycosylation 51 0.147
129
EPL116 Epileptic Encephalopathy, Childhood-Onset 42 0.147
130
VLT001 Vulto-Van Silfhout-De Vries Syndrome 41 0.147
131
HLS003 Helsmoortel-Van Der Aa Syndrome 48 0.147
132
MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 26 0.147
133
c DVL030 Developmental and Epileptic Encephalopathy 36 40 0.147
134
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 50 0.147
135
c DVL029 Developmental and Epileptic Encephalopathy 2 46 0.147
136
c EPL136 Epilepsy, Childhood Absence 5 22 0.147
137
GLS018 Glass Syndrome 60 0.147
138
c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 32 0.147
139
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 62 0.147
140
P PRD006 Prader-Willi Syndrome 60 0.147
141
c MGR032 Migraine, Familial Hemiplegic, 1 54 0.147
142
c TBR025 Tuberous Sclerosis 1 84 0.147
143
P CHL002 Childhood Absence Epilepsy 63 0.147
144
P TBR001 Tuberous Sclerosis 69 0.147
145
c ACT027 Acute Pancreatitis 60 0.147
146
P BNG026 Benign Neonatal Seizures 49 0.147
147
BNG006 Benign Familial Neonatal Epilepsy 54 0.147
148
MLG120 Malignant Migrating Partial Seizures of Infancy 44 0.147
149
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 38 0.147
151
P FBR031 Febrile Seizures 52 0.147
152
FRS020 Fars2 Deficiency 8 0.147
156
CNV009 Convulsions Benign Familial Neonatal Dominant Form 31 0.147
157
c EPL009 Epilepsy Progressive Myoclonic Type 3 19 0.147
158
MTH021 Methylmalonic Acidemia with Homocystinuria 44 0.147
159
PRX086 Paroxysmal Exertion-Induced Dyskinesia 27 0.147
163
MYC069 Myoclonic-Astastic Epilepsy 43 0.147
164
c FML306 Familial or Sporadic Hemiplegic Migraine 37 0.147
165
PTR034 Paternal Uniparental Disomy 19 0.147
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