Search results for 18p Deletion Syndrome

276 hits were found for 18p Deletion Syndrome

# Family MCID Name MIFTS Score
1
CHR211 Chromosome 18p Deletion Syndrome 38 7.459
2
18P001 18p Deletion Syndrome 14 3.230
3
CHR178 Chromosomal Triplication 35 0.370
4
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.324
5
P MCR010 Microcephaly 58 0.312
6
DWN001 Down Syndrome 70 0.278
7
P HYP265 Hypotonia 42 0.270
8
TTR014 Tetrasomy 18p 30 0.254
9
P PTS002 Ptosis 52 0.223
10
P MSC005 Muscular Dystrophy 66 0.214
11
CLF027 Cleft Palate, Isolated 64 0.210
12
P ANG001 Angelman Syndrome 67 0.208
13
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.207
14
ATM095 Autoimmune Disease 61 0.204
15
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.204
16
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.204
17
P TRC086 Trichohepatoenteric Syndrome 1 59 0.202
18
P DYS154 Dystonia 65 0.202
19
THR013 Thoracic Outlet Syndrome 53 0.200
20
HYP748 Hypertelorism 50 0.200
21
47X002 47,xyy 49 0.198
22
P GND004 Gonadal Dysgenesis 49 0.197
23
ACQ007 Acquired Immunodeficiency Syndrome 60 0.195
24
c BRN108 Branchiootic Syndrome 1 61 0.195
25
P TRN020 Turner Syndrome 65 0.193
26
P HLP001 Holoprosencephaly 68 0.190
27
c LKM061 Leukemia, Acute Myeloid 83 0.188
28
P ANR048 Aniridia 1 63 0.186
29
P STR020 Strabismus 56 0.185
30
P LKM002 Leukemia 66 0.182
31
MCH006 Mechanical Strabismus 39 0.179
32
P SZR006 Seizure Disorder 58 0.176
33
P HYP086 Hypothyroidism 68 0.174
34
ACN002 Acanthosis Nigricans 60 0.171
35
HRT011 Heart Septal Defect 50 0.169
36
AND002 Androgen Insensitivity Syndrome 66 0.168
37
ANR007 Anorexia Nervosa 63 0.166
38
P SCL018 Scoliosis 60 0.162
39
P AXN002 Axenfeld-Rieger Syndrome 58 0.162
40
CHR212 Chromosome 18p Duplication 25 0.162
41
ATX010 Ataxia Neuropathy Spectrum 38 0.162
42
c SPN225 Spondyloarthropathy 1 73 0.162
43
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.161
44
ACT064 Acute Necrotizing Encephalitis 32 0.161
45
HYP080 Hypogonadism 50 0.161
46
BLD137 Blood Group--Ahonen 19 0.161
47
VSL002 Visual Epilepsy 58 0.160
48
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.158
49
HYP064 Hypogonadotropism 40 0.156
50
P HRT032 Heart Disease 75 0.155
51
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.151
52
ALR002 Al-Raqad Syndrome 34 0.150
53
c SYS001 Systemic Lupus Erythematosus 86 0.149
54
P SNS001 Sensorineural Hearing Loss 61 0.148
55
P EPL164 Epilepsy 71 0.148
56
AZS001 Azoospermia 50 0.147
57
MRF001 Marfan Syndrome 75 0.147
58
P ATX030 Ataxia-Telangiectasia 83 0.146
59
P SHR029 Short Syndrome 57 0.144
60
P RNG032 Ring Chromosome 42 0.143
61
P HYD006 Hydrocephalus 65 0.143
62
CLF001 Cleft Lip 53 0.142
63
P TTR001 Tetralogy of Fallot 69 0.141
64
P OVR082 Overgrowth Syndrome 50 0.141
65
CRY035 Cryptorchidism, Unilateral or Bilateral 59 0.141
66
LRN003 Learning Disability 49 0.140
67
CNS004 Constipation 57 0.138
68
P CRN037 Craniosynostosis 68 0.137
69
P PRS038 Personality Disorder 65 0.136
70
ANX010 Anxiety 72 0.136
71
P TRM003 Tremor 53 0.135
72
HMN044 Human Immunodeficiency Virus Type 1 71 0.134
73
P LPS004 Lupus Erythematosus 61 0.134
74
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.132
75
P PLY006 Polydactyly 58 0.132
76
DFC004 Deficiency Anemia 75 0.131
77
P THY032 Thyroiditis 53 0.131
78
ART001 Arterial Tortuosity Syndrome 66 0.130
79
CHR382 Chromosome 18q Deletion Syndrome 38 0.130
80
P ALP106 Alport Syndrome 1, X-Linked 55 0.129
81
P MYC033 Myoclonus 46 0.129
82
P MSC003 Muscular Atrophy 52 0.127
83
P ICH004 Ichthyosis 54 0.127
84
KRT009 Keratosis 53 0.126
85
P MYP006 Myopia 55 0.126
86
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.126
87
P HYP040 Hypospadias 51 0.124
88
P MVM001 Movement Disease 61 0.124
89
P ATR010 Atrial Heart Septal Defect 60 0.124
90
P BPL003 Bipolar Disorder 56 0.124
91
MYC088 Mycobacterium Avium Complex Infections 29 0.123
92
ADL002 Adult Syndrome 69 0.123
93
BRR014 Barrett Esophagus 64 0.122
94
AND005 Androgen Insensitivity Syndrome, Mild 22 0.122
95
CRD002 Cri-Du-Chat Syndrome 48 0.121
96
P ALP008 Alopecia 56 0.121
97
WLF002 Wolf-Hirschhorn Syndrome 56 0.120
98
c ACT073 Acute Leukemia 58 0.120
99
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.119
100
CLF004 Cleft Lip/palate 54 0.118
101
c MJR024 Major Affective Disorder 9 41 0.118
102
c MJR022 Major Affective Disorder 8 38 0.118
103
SPS057 Spasticity 41 0.117
104
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.116
105
ADP007 Adie Pupil 39 0.116
106
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.114
107
MCR013 Microphthalmia 60 0.113
108
MTY003 Mutyh Polyposis 29 0.113
109
HNM002 Hinman Syndrome 29 0.113
110
WST001 West Syndrome 60 0.113
111
HPT082 Hepatic Adenomas, Familial 37 0.112
112
LNG099 Lung Disease 61 0.112
113
P DBT009 Diabetes Mellitus 64 0.112
114
AMN001 Amenorrhea 54 0.111
115
SMT008 Smith-Magenis Syndrome 55 0.111
116
NND010 Nondisjunction 34 0.111
117
P PTN014 Patent Ductus Arteriosus 1 60 0.110
118
GRW007 Growth Hormone Deficiency 43 0.109
119
DPR016 Depression 63 0.108
120
CHR247 Chromosome 4p Deletion 22 0.108
121
P BCK002 Beckwith-Wiedemann Syndrome 62 0.108
122
P HYP083 Hypopituitarism 53 0.107
123
IMM003 Immunoglobulin Alpha Deficiency 45 0.107
124
P PSR002 Psoriasis 62 0.106
125
OTT002 Otitis Media 71 0.106
126
PRP016 Paraplegia 53 0.106
127
PST011 Pustulosis of Palm and Sole 52 0.106
128
DWR001 Dwarfism 44 0.105
129
P SPN046 Spinal Muscular Atrophy 64 0.104
130
P TCD001 Tic Disorder 54 0.102
131
GST092 Gastroesophageal Reflux 65 0.102
132
MNT002 Mental Depression 57 0.101
133
PSY004 Psychotic Disorder 67 0.101
134
GLB015 Glioblastoma Multiforme 75 0.098
135
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 0.097
136
ANS023 Anus, Imperforate 55 0.097
137
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 61 0.097
138
PLY024 Polymicrogyria 49 0.096
139
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.096
140
PCT003 Pectus Excavatum 48 0.096
141
c PRM038 Primary Agammaglobulinemia 43 0.094
142
P RHM011 Rheumatoid Arthritis 80 0.094
143
APR001 Apraxia 51 0.093
144
P DRM053 Dermatitis, Atopic 66 0.092
145
P PNC035 Pancreatic Cancer 84 0.092
146
HYD038 Hydrops Fetalis, Nonimmune 61 0.092
147
P APL001 Aplastic Anemia 74 0.091
148
EPC005 Epicanthus 43 0.091
150
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.089
151
c JVN010 Juvenile Rheumatoid Arthritis 67 0.089
152
P CRC039 Coarctation of Aorta 47 0.088
153
PLY012 Polyhydramnios 46 0.088
154
CHR073 Choreatic Disease 52 0.088
155
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 46 0.088
156
P CHR084 Chromosomal Disease 32 0.087
157
CLB002 Clubfoot 47 0.086
158
ING001 Inguinal Hernia 60 0.086
159
MLK003 Melkersson-Rosenthal Syndrome 42 0.086
160
HSH003 Hashimoto Thyroiditis 62 0.086
161
BLD163 Blood Group, Dombrock System 26 0.086
162
DST011 Distal Chromosome 18q Deletion Syndrome 20 0.085
163
DNT012 Dental Caries 51 0.085
164
P ART022 Arthritis 70 0.085
165
c RTN041 Retinitis Pigmentosa 11 41 0.085
166
CMP097 Complex Chromosomal Rearrangement 25 0.084
167
P PLY147 Polydactyly, Postaxial, Type A1 56 0.084
168
ERY069 Erythrokeratoderma ''en Cocardes'' 30 0.084
169
c ORF040 Orofaciodigital Syndrome Viii 50 0.083
170
TRG019 Trigonocephaly with Short Stature and Developmental Delay 34 0.082
171
CHN065 Choanal Atresia, Posterior 50 0.082
172
P GRV001 Graves' Disease 55 0.081
173
APH002 Aphasia 57 0.081
174
c BLD140 Blood Group, I System 30 0.081
175
HYP264 Hypertonia 38 0.081
176
c FNC043 Fanconi Anemia, Complementation Group E 62 0.080
177
PTT046 Pituitary Hormone Deficiency, Combined, 2 63 0.079
178
ART030 Aortic Arch Interruption 27 0.078
179
RFR003 Refractive Error 44 0.078
180
NRN002 Neuronitis 33 0.078
181
P BRN022 Bronchiectasis 59 0.077
182
MYL020 Myelomeningocele 51 0.077
183
LYM004 Lymphoid Interstitial Pneumonia 53 0.077
184
INT066 Interstitial Lung Disease 59 0.076
185
CHR492 Chromosome 13q14 Deletion Syndrome 41 0.075
186
LPD016 Lipoid Proteinosis of Urbach and Wiethe 49 0.075
187
FCL012 Facial Paralysis 48 0.075
188
FCL022 Focal Dystonia 42 0.075
189
PRT171 Partial Deletion of the Short Arm of Chromosome 18 9 0.075
190
CHR214 Chromosome 18q Duplication 15 0.075
191
PRX013 Proximal Chromosome 18q Deletion Syndrome 17 0.073
192
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 52 0.073
193
c DYS068 Dystonia 7, Torsion 24 0.072
194
EST005 Esotropia 43 0.072
195
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.071
196
c ART115 Aortic Valve Disease 1 75 0.071
197
MNC001 Monocular Esotropia 31 0.071
198
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.071
199
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39 0.070
200
IGR001 Ige Responsiveness, Atopic 59 0.070
201
PTS001 Patau Syndrome 49 0.070
202
HTR003 Heterotaxy 39 0.070
203
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 59 0.069
204
c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.068
205
XLN215 X-Linked Congenital Generalized Hypertrichosis 19 0.068
206
c CNG216 Congenital Hydrocephalus 50 0.068
207
P STC001 Stickler Syndrome 57 0.068
208
IMM154 Immunoglobulin a Deficiency 1 43 0.067
209
c MNS008 Monosomy 21 24 0.067
210
P SYN057 Syndromic Intellectual Disability 39 0.067
211
PLM041 Pulmonary Valve Stenosis 49 0.067
212
P MNN007 Meningocele 37 0.066
213
BLD165 Blood Group, Colton System 23 0.066
214
P TMP001 Temporal Lobe Epilepsy 50 0.066
215
P FBR031 Febrile Seizures 51 0.066
216
MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21 0.066
217
P DYS193 Dystonia 11, Myoclonic 56 0.065
218
SPC005 Speech Disorder 42 0.065
219
AVD001 Avoidant Personality Disorder 54 0.065
220
ISL003 Isolated Growth Hormone Deficiency 52 0.064
221
CYS002 Cystic Lymphangioma 47 0.064
222
P THR117 Three M Syndrome 1 63 0.064
223
ALB014 Alobar Holoprosencephaly 36 0.063
224
c FCS011 Facioscapulohumeral Muscular Dystrophy 2 36 0.063
225
c RNG013 Ring Chromosome 18 24 0.062
226
OBS634 Obsolete: Autosomal Dominant Focal Dystonia, Dyt7 Type 11 0.062
227
KRT047 Keratosis Pilaris Atrophicans 30 0.060
228
EXT022 Exotropia 42 0.060
229
PPL052 Papillomatosis, Confluent and Reticulated 34 0.060
230
ALT003 Alternating Exotropia 34 0.060
231
P MJR007 Major Affective Disorder 1 43 0.059
232
CMB021 Combined Pituitary Hormone Deficiency 40 0.058
233
CRV043 Cervical Dystonia 45 0.058
234
SLT005 Solitary Median Maxillary Central Incisor 33 0.058
235
HLC007 Helicobacter Pylori Infection 59 0.057
236
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 50 0.057
237
CHR248 Chromosome 4p Duplication 26 0.056
238
MST020 Mast Cell Activation Syndrome 27 0.056
239
c PSR023 Psoriasis 1 49 0.056
240
CHR188 Chromosome 11q Duplication 15 0.055
241
TTR011 Tetraploidy 47 0.055
242
P ORF002 Orofacial Cleft 43 0.054
243
PTT001 Pituitary Hypoplasia 34 0.053
244
c SYS043 Systemic Lupus Erythematosus 1 38 0.052
245
PRN009 Paranoid Schizophrenia 49 0.052
246
CHR270 Chromosome 9p Duplication 29 0.050
247
P NNS031 Non-Syndromic Intellectual Disability 28 0.050
248
P BLP003 Blepharospasm 44 0.050
249
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.049
250
c GLY005 Glycogen Storage Disease Vi 51 0.049
251
CHR234 Chromosome 21q Duplication 10 0.049
252
NNT012 Neonatal Jaundice 53 0.049
253
CHR268 Chromosome 8q Duplication 27 0.048
254
P JVN008 Juvenile Glaucoma 42 0.047
255
ALP048 Alopecia Totalis 31 0.047
256
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 61 0.046
257
NRN016 Neuronal Migration Disorders 40 0.046
258
ANR033 Anorectal Anomalies 23 0.045
259
CLP002 Colpocephaly 20 0.045
260
ISL114 Isolated Growth Hormone Deficiency, Type Ii 40 0.045
261
c HLP023 Holoprosencephaly 1 53 0.045
262
CHR261 Chromosome 7p Duplication 15 0.045
263
PRT239 Partial Deletion of the Long Arm of Chromosome 18 8 0.045
264
EPT021 Epithelial Recurrent Erosion Dystrophy 37 0.044
265
CHR260 Chromosome 7p Deletion 11 0.044
266
P CHL002 Childhood Absence Epilepsy 60 0.044
267
CHR231 Chromosome 20q Duplication 12 0.043
268
c DYS058 Dystonia 15, Myoclonic 19 0.043
269
c RRC022 Rare Chromosomal Anomaly 11 0.041
270
ANR003 Anorectal Stricture 26 0.040
271
PGM030 Pigmentation Anomaly of the Skin 25 0.038
272
CHR229 Chromosome 20p Duplication 28 0.038
273
c DYS056 Dystonia 12 64 0.037
274
CHR238 Chromosome 2p Duplication 15 0.037
275
CHR203 Chromosome 16p Duplication 11 0.034
276
DYT003 Dyt-Gnal 13 0.032
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