Search results for 1q21.1 Microdeletion Syndrome

223 hits were found for 1q21.1 Microdeletion Syndrome

# Family MCID Name MIFTS Score
1
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39 81.356
2
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 60.564
3
CHR225 Chromosome 1q21.1 Duplication Syndrome 34 60.159
4
DGR001 Digeorge Syndrome 62 57.059
5
THR009 Thrombocytopenia-Absent Radius Syndrome 53 48.554
6
CHR662 Chromosome 15q13.3 Deletion Syndrome 38 47.231
7
P CRP001 Carpal Tunnel Syndrome 66 46.052
8
P MCR010 Microcephaly 60 45.540
9
P KLN006 Koolen-De Vries Syndrome 51 44.987
10
P PRD006 Prader-Willi Syndrome 61 43.599
11
1Q2003 1q21.1 Recurrent Microdeletion 22 42.894
12
P RTT002 Rett Syndrome 79 41.087
13
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 40.134
14
WLL001 Williams-Beuren Syndrome 61 39.898
15
SMT008 Smith-Magenis Syndrome 54 36.529
16
P HYP265 Hypotonia 42 36.424
17
P ANG001 Angelman Syndrome 65 36.175
18
c ATS007 Autism Spectrum Disorder 72 35.435
19
P EPL164 Epilepsy 68 35.242
20
VLC001 Velocardiofacial Syndrome 57 35.221
21
GLL008 Gilles De La Tourette Syndrome 65 34.731
22
CHR178 Chromosomal Triplication 34 33.772
23
P HYP730 Hypogonadotropic Hypogonadism 53 33.611
24
P INF032 Infertility 57 33.526
25
P THR014 Thrombocytopenia 66 33.353
26
WST001 West Syndrome 59 32.293
27
CHR523 Chromosome 15q11.2 Deletion Syndrome 31 32.196
28
P ATS364 Autism 69 31.564
29
47X002 47,xyy 48 30.311
30
P ENC018 Encephalopathy 62 30.244
31
WLF002 Wolf-Hirschhorn Syndrome 57 29.843
32
c LKM061 Leukemia, Acute Myeloid 83 29.038
33
P HYP055 Hypoplastic Left Heart Syndrome 65 28.490
34
CLF027 Cleft Palate, Isolated 64 27.989
35
P HRT032 Heart Disease 81 27.961
36
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 27.887
37
LWC002 Lowe Oculocerebrorenal Syndrome 68 27.300
38
P KBK002 Kabuki Syndrome 1 65 27.252
39
P ATT013 Attention Deficit-Hyperactivity Disorder 64 27.209
40
P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 60 26.995
41
P SZR006 Seizure Disorder 70 26.913
42
ATS010 Autosomal Recessive Disease 42 26.830
43
P SCH015 Schizophrenia 74 26.184
44
17Q009 17q12 Recurrent Deletion Syndrome 18 26.129
45
HRT011 Heart Septal Defect 49 25.962
46
CHR103 Charge Syndrome 66 25.906
47
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 25.785
48
P CTR002 Cataract 60 25.516
49
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56 25.494
50
DRV001 Dravet Syndrome 69 25.261
51
P HYP086 Hypothyroidism 69 24.981
52
CNS004 Constipation 56 24.971
53
P MLN007 Male Infertility 56 24.296
54
P PLY006 Polydactyly 59 24.285
55
HYP748 Hypertelorism 46 24.007
56
P LKM002 Leukemia 67 23.405
57
CLF001 Cleft Lip 53 23.404
58
P SCL018 Scoliosis 57 23.254
59
MLL018 Miller-Dieker Lissencephaly Syndrome 52 22.993
60
P NRF002 Neurofibromatosis 57 22.821
61
CHR501 Chromosome 17q12 Deletion Syndrome 34 22.511
62
P HYD006 Hydrocephalus 61 22.470
63
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 22.274
64
ADP007 Adie Pupil 40 21.960
65
P VNT002 Ventricular Septal Defect 58 21.954
66
P TTR001 Tetralogy of Fallot 69 21.939
67
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 21.615
68
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 21.614
69
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 21.614
70
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 21.614
71
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 21.614
72
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 21.614
73
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 21.614
74
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 21.614
75
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 21.613
76
MCR013 Microphthalmia 60 21.339
77
LRN003 Learning Disability 49 21.275
78
CLF004 Cleft Lip/palate 57 21.236
79
P PTS002 Ptosis 52 21.014
80
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 20.825
81
DPR016 Depression 65 19.737
82
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 46 19.054
83
ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 46 18.813
84
P SLP005 Sleep Disorder 61 18.567
85
P ATR010 Atrial Heart Septal Defect 58 18.467
86
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 64 18.360
87
HYP056 Hypoglycemia 65 18.348
88
BLL001 Baller-Gerold Syndrome 58 17.858
89
AYM001 Ayme-Gripp Syndrome 56 17.741
90
P LKM062 Leukemia, Acute Lymphoblastic 69 16.946
91
ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 44 16.935
92
MNT002 Mental Depression 57 16.633
93
P LYM118 Lymphoma 67 16.567
94
P BPL003 Bipolar Disorder 56 16.460
95
WLL006 Wells Syndrome 49 16.028
96
ISL075 Isolated Pierre Robin Sequence 29 15.948
97
c MJR022 Major Affective Disorder 8 38 15.797
98
c MJR024 Major Affective Disorder 9 41 15.797
99
ABL002 Ablepharon-Macrostomia Syndrome 50 15.518
100
CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 27 15.493
101
MDD011 Mood Disorder 62 15.424
102
c ACT073 Acute Leukemia 58 14.884
103
OBS002 Obsessive-Compulsive Disorder 68 14.740
104
PSY004 Psychotic Disorder 66 14.637
105
c BRD011 Bardet-Biedl Syndrome 10 49 14.460
106
P HYP040 Hypospadias 51 14.456
107
CHR659 Chromosome 22q11.2 Duplication Syndrome 42 14.347
108
P PRM011 Primary Ciliary Dyskinesia 69 14.340
109
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 14.335
110
P NRB001 Neuroblastoma 66 14.283
111
ANX010 Anxiety 70 14.175
112
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40 14.124
113
GRW007 Growth Hormone Deficiency 46 14.116
114
P RNL100 Renal Hypodysplasia/aplasia 1 63 14.112
115
INT323 Intraocular Pressure Quantitative Trait Locus 64 14.053
116
P OCL013 Oculodentodigital Dysplasia 67 14.016
117
P BCL017 B-Cell Lymphoma 59 13.454
118
P THL005 Thalassemia 56 13.336
119
HST010 Histiocytosis 49 13.134
120
PRP016 Paraplegia 52 12.846
121
P ALC033 Alcohol Use Disorder 61 12.805
122
P PRS038 Personality Disorder 65 12.778
123
CHR502 Chromosome 17q12 Duplication Syndrome 36 12.692
124
P HYP083 Hypopituitarism 52 12.631
125
CHR590 Chromosome 15q11-Q13 Duplication Syndrome 36 12.589
126
HNM002 Hinman Syndrome 27 12.588
127
SVR004 Severe Combined Immunodeficiency 72 12.497
128
PRM013 Premature Menopause 58 12.308
129
GST045 Gastroenteritis 58 12.258
130
P LSS002 Lissencephaly 50 12.201
131
P INH011 Inherited Bone Marrow Failure Syndromes 32 12.018
132
P URN019 Urinary Tract Infection 49 11.996
133
BLP004 Blepharophimosis 36 11.966
134
P MJR001 Major Depressive Disorder 68 11.788
135
LYM133 Lymphoma, Hodgkin, Classic 74 11.635
136
NRF007 Neurofibroma 64 11.457
137
P RNG032 Ring Chromosome 39 11.275
138
P ATR011 Atrial Fibrillation 66 11.157
139
16P013 16p12.2 Recurrent Deletion 8 11.142
140
P PRK057 Parkinson Disease, Late-Onset 80 11.129
141
P EPL140 Epilepsy, Idiopathic Generalized 62 10.838
142
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 10.751
143
RNL078 Renal Dysplasia 46 10.742
144
c SPL024 Split-Hand/foot Malformation 3 44 10.728
145
OLG003 Oligohydramnios 51 10.708
146
P FBR031 Febrile Seizures 52 10.670
147
c CNG006 Congenital Hypothyroidism 63 10.666
148
P EYD002 Eye Disease 57 10.618
149
SRC014 Sarcoma 65 10.360
150
SPN035 Spindle Cell Sarcoma 54 10.228
151
PLM041 Pulmonary Valve Stenosis 50 10.177
152
MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 20 10.162
153
P GRV001 Graves' Disease 55 10.092
154
STS002 Situs Inversus 45 9.815
155
c MCR312 Microphthalmia, Syndromic 10 40 9.723
156
EPC005 Epicanthus 36 9.663
157
GST037 Gastroparesis 52 9.552
158
P PRV006 Pervasive Developmental Disorder 52 9.491
159
SNS003 Sensory Peripheral Neuropathy 52 9.432
160
CHR498 Chromosome 16p11.2 Duplication Syndrome 27 9.405
161
DDN011 Duodenal Atresia 48 9.324
162
P ANT088 Anterior Segment Dysgenesis 55 9.141
163
c LSS005 Lissencephaly 1 57 9.113
164
RPD005 Rapidly Involuting Congenital Hemangioma 46 9.000
165
SYN116 Syndromic Obesity 27 8.723
166
P RHB003 Rhabdomyosarcoma 66 8.677
167
c CHR565 Chromosomal Deletion Syndrome 25 8.536
168
DXT001 Dextrocardia 55 8.508
169
DFF005 Diffuse Large B-Cell Lymphoma 54 8.495
170
c ALP101 Alpha-Thalassemia 62 8.483
171
OST159 Osteogenic Sarcoma 66 8.469
172
SCH012 Schizoaffective Disorder 50 8.396
173
LNG108 Langerhans Cell Histiocytosis 58 8.360
174
CYS002 Cystic Lymphangioma 45 8.165
175
c PRM196 Premature Ovarian Failure 1 59 8.075
176
P HNT016 Huntington Disease 73 8.055
177
P DYS005 Dyslexia 41 7.966
178
c VSC019 Vesicoureteral Reflux 1 57 7.831
179
LPD016 Lipoid Proteinosis of Urbach and Wiethe 50 7.825
181
MSC020 Mosaic Trisomy 8 32 7.629
182
CKT002 Cakut 47 7.469
183
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 60 7.454
184
BRK010 Burkitt Lymphoma 66 7.218
185
P MGL013 Megalencephaly 45 7.194
186
RNL025 Renal Hypoplasia 41 6.800
187
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 6.723
188
SQM006 Squamous Cell Carcinoma 60 6.443
189
P MJR007 Major Affective Disorder 1 42 6.371
190
P CHL002 Childhood Absence Epilepsy 63 6.339
191
P PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 42 6.236
192
LYM004 Lymphoid Interstitial Pneumonia 49 6.190
193
VSL002 Visual Epilepsy 39 6.113
194
IMM162 Immunoglobulin E Concentration, Serum 28 6.087
195
GST019 Gastrointestinal Stromal Tumor 78 6.084
196
P SPL061 Split Hand-Foot Malformation 43 5.867
197
GNT046 Genetic Epilepsy with Febrile Seizures Plus 29 5.731
198
IDP070 Idiopathic Scoliosis 42 5.633
199
SFT003 Soft Tissue Sarcoma 57 5.542
200
16P008 16p11.2 Duplication 16 5.479
202
c HRD088 Hereditary Neuropathies 33 5.027
203
P BNG030 Benign Ependymoma 51 4.890
204
TCL027 T-Cell Acute Lymphoblastic Leukemia 51 4.810
205
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 4.807
206
CLL010 Cellular Ependymoma 57 4.761
207
GST010 Gestational Trophoblastic Neoplasm 52 4.682
208
c HYD046 Hydatidiform Mole, Recurrent, 1 59 4.569
209
OPP004 Oppositional Defiant Disorder 49 4.563
210
c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 51 4.457
211
P SCL057 Scoliosis, Isolated 1 40 4.409
212
P JVN007 Juvenile Absence Epilepsy 47 4.404
213
P FBR017 Fibrosarcoma 56 4.209
214
CNG608 Congenital Hypopituitarism 29 4.012
215
c EPL133 Epilepsy, Juvenile Absence 1 46 3.922
216
c SCH061 Schizophrenia 16 24 3.602
217
ATS301 Autosomal Dominant Epilepsy with Auditory Features 36 3.474
218
17Q008 17q12 Recurrent Duplication 5 2.943
219
INT025 Intermittent Explosive Disorder 39 2.439
220
c SCH051 Schizophrenia 4 32 2.333
221
c SPS091 Spastic Paraplegia 4 27 2.196
222
c HRD100 Hereditary Lymphedema Ic 28 1.654
223
c SCH053 Schizophrenia 13 27 1.319
Content
Loading form....