Search results for 1p36 deletion syndrome

153 hits were found for 1p36 deletion syndrome

# Family MCID Name MIFTS Score
1
CHR222 Chromosome 1p36 Deletion Syndrome 49 28.054
2
P HYP265 Hypotonia 42 0.251
3
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.236
4
WST001 West Syndrome 60 0.205
5
c ATR087 Atrial Standstill 1 74 0.167
6
P EPL164 Epilepsy 71 0.167
7
P PRD006 Prader-Willi Syndrome 59 0.167
8
P MCR010 Microcephaly 58 0.167
9
c HYD064 Hydrocephalus, Congenital, 1 47 0.167
10
c DLT002 Dilated Cardiomyopathy 79 0.145
11
P SZR006 Seizure Disorder 58 0.145
12
VSL002 Visual Epilepsy 58 0.145
13
P LFT003 Left Ventricular Noncompaction 55 0.145
14
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 44 0.145
15
P CRD119 Cardiac Arrest 67 0.118
16
P ANG001 Angelman Syndrome 67 0.118
17
P TRN020 Turner Syndrome 65 0.118
18
P MYP004 Myopathy 64 0.118
19
P CTS001 Cutis Laxa 62 0.118
20
DRM006 Dermatitis 61 0.118
21
P ENC018 Encephalopathy 61 0.118
22
P VNT002 Ventricular Septal Defect 60 0.118
23
PMP006 Pemphigus Vulgaris, Familial 58 0.118
24
EBS001 Ebstein Anomaly 55 0.118
25
P PMP001 Pemphigus 55 0.118
26
SMT008 Smith-Magenis Syndrome 55 0.118
27
HYP060 Hyperinsulinism 54 0.118
28
CNG046 Congenital Fiber-Type Disproportion 54 0.118
29
P PRG013 Paraganglioma 52 0.118
30
HRT011 Heart Septal Defect 50 0.118
31
DYS073 Dysphagia 50 0.118
32
BLR001 Biliary Atresia 50 0.118
33
PLY024 Polymicrogyria 49 0.118
34
PNC118 Pancreas, Annular 43 0.118
35
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.118
36
NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 30 0.118
37
CHR220 Chromosome 1p Deletion 15 0.118
38
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.084
39
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.084
40
P ATX030 Ataxia-Telangiectasia 83 0.084
41
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.084
42
P HRT032 Heart Disease 75 0.084
43
c SPN225 Spondyloarthropathy 1 73 0.084
44
DWN001 Down Syndrome 70 0.084
45
ADL002 Adult Syndrome 69 0.084
46
P HYP086 Hypothyroidism 68 0.084
47
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66 0.084
48
AND002 Androgen Insensitivity Syndrome 66 0.084
49
ART001 Arterial Tortuosity Syndrome 66 0.084
50
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.084
51
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.084
52
BRR014 Barrett Esophagus 64 0.084
53
P DBT009 Diabetes Mellitus 64 0.084
54
DGR001 Digeorge Syndrome 63 0.084
55
DPR016 Depression 63 0.084
56
P ANR048 Aniridia 1 63 0.084
57
ANR007 Anorexia Nervosa 63 0.084
58
c FNC043 Fanconi Anemia, Complementation Group E 62 0.084
59
c BRN108 Branchiootic Syndrome 1 61 0.084
60
PHL006 Phelan-Mcdermid Syndrome 61 0.084
61
P CTR002 Cataract 60 0.084
62
CHL068 Cholestasis 60 0.084
63
P ATR010 Atrial Heart Septal Defect 60 0.084
64
ACN002 Acanthosis Nigricans 60 0.084
65
P THL005 Thalassemia 60 0.084
66
STT001 Status Epilepticus 59 0.084
67
P TRC086 Trichohepatoenteric Syndrome 1 59 0.084
68
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.084
69
c EPS042 Episodic Ataxia, Type 1 58 0.084
70
P AXN002 Axenfeld-Rieger Syndrome 58 0.084
71
MBS002 Moebius Syndrome 57 0.084
72
c PRX059 Peroxisome Biogenesis Disorder 1a 57 0.084
73
P SHR029 Short Syndrome 57 0.084
74
MNT002 Mental Depression 57 0.084
75
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.084
76
HYP005 Hypokalemia 55 0.084
77
P ALP106 Alport Syndrome 1, X-Linked 55 0.084
78
P PRV002 Periventricular Nodular Heterotopia 54 0.084
79
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 53 0.084
80
THR013 Thoracic Outlet Syndrome 53 0.084
81
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.084
82
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 52 0.084
83
P CRB101 Cerebrooculofacioskeletal Syndrome 1 52 0.084
84
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.084
85
P PRR016 Pierre Robin Syndrome 52 0.084
86
LYS002 Lysosomal Storage Disease 52 0.084
87
PRV004 Periventricular Leukomalacia 51 0.084
88
P FBR031 Febrile Seizures 51 0.084
89
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.084
90
P CNT056 Cantu Syndrome 51 0.084
91
P SMP003 Simpson-Golabi-Behmel Syndrome 50 0.084
92
c WRB002 Warburg Micro Syndrome 1 50 0.084
93
CHN065 Choanal Atresia, Posterior 50 0.084
94
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.084
95
DDN011 Duodenal Atresia 49 0.084
96
P GND004 Gonadal Dysgenesis 49 0.084
97
BHR001 Behr Syndrome 49 0.084
98
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.084
99
MRT007 Martsolf Syndrome 47 0.084
100
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.084
101
P PRC019 Precocious Puberty 47 0.084
102
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.084
103
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.084
104
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.084
105
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.084
106
OHD004 Ohdo Syndrome 44 0.084
107
OHD005 Ohdo Syndrome, Sbbys Variant 44 0.084
108
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.084
109
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.084
110
ACR012 Aicardi Syndrome 43 0.084
111
c HMG003 Hemoglobin E Disease 43 0.084
112
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 42 0.084
113
c RTN041 Retinitis Pigmentosa 11 41 0.084
114
P WRB001 Warburg Micro Syndrome 40 0.084
115
FML304 Familial Isolated Dilated Cardiomyopathy 40 0.084
116
BKR002 Baker-Gordon Syndrome 40 0.084
117
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39 0.084
118
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39 0.084
119
ATX010 Ataxia Neuropathy Spectrum 38 0.084
120
CRB009 Cerebritis 36 0.084
121
OBS015 Obesity, Hyperphagia, and Developmental Delay 35 0.084
122
CRB159 Cerebral Visual Impairment 35 0.084
123
CLC011 Cloacal Exstrophy 35 0.084
124
CHR178 Chromosomal Triplication 35 0.084
125
ALR002 Al-Raqad Syndrome 34 0.084
126
c CRB100 Cerebrooculofacioskeletal Syndrome 4 33 0.084
127
NRN002 Neuronitis 33 0.084
128
P CHR084 Chromosomal Disease 32 0.084
129
ACT064 Acute Necrotizing Encephalitis 32 0.084
130
NRT002 Neurotic Excoriation 32 0.084
131
c CRB098 Cerebrooculofacioskeletal Syndrome 2 31 0.084
132
PRT055 Prieto X-Linked Mental Retardation Syndrome 31 0.084
133
EXN003 Exencephaly 31 0.084
134
CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 31 0.084
135
c PRX051 Peroxisome Biogenesis Disorder 6a 30 0.084
136
OSC001 Oeis Complex 30 0.084
137
c BLD140 Blood Group, I System 30 0.084
138
c PRX043 Peroxisome Biogenesis Disorder 6b 30 0.084
139
MYC088 Mycobacterium Avium Complex Infections 29 0.084
140
ISL075 Isolated Pierre Robin Sequence 29 0.084
141
CHR524 Chromosome 16p13.3 Duplication Syndrome 29 0.084
142
MTY003 Mutyh Polyposis 29 0.084
143
CHR229 Chromosome 20p Duplication 28 0.084
144
c LFT017 Left Ventricular Noncompaction 8 27 0.084
145
BLD163 Blood Group, Dombrock System 26 0.084
146
ORF053 Orofacial Clefting Syndrome 22 0.084
147
AND005 Androgen Insensitivity Syndrome, Mild 22 0.084
148
PLY039 Polymorphic Reticulosis 21 0.084
149
XLN215 X-Linked Congenital Generalized Hypertrichosis 19 0.084
150
BLD137 Blood Group--Ahonen 19 0.084
151
OHD002 Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 16 0.084
152
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.084
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