Search results for B3GAT3

56 hits were found for B3GAT3

# Family MCID Name MIFTS Score
1
MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 42 15.698
2
LRS010 Larsen-Like Syndrome B3gat3 Type 20 11.065
3
P CFF008 Coffin-Siris Syndrome 1 63 3.052
4
ATS010 Autosomal Recessive Disease 48 3.052
5
P DSB002 Desbuquois Dysplasia 32 2.262
6
P LRS001 Larsen Syndrome 62 2.217
7
TMT002 Temtamy Preaxial Brachydactyly Syndrome 50 2.217
8
GRD005 Geroderma Osteodysplasticum 49 2.217
9
EHL015 Ehlers-Danlos Syndrome Progeroid Type 45 2.217
10
P RDL002 Radioulnar Synostosis 45 2.217
11
c DPH024 Diaphragmatic Hernia, Congenital 63 2.158
12
P ORT004 Orthostatic Intolerance 62 2.158
13
c CFF010 Coffin-Siris Syndrome 3 42 2.158
14
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 36 2.158
15
HYP748 Hypertelorism 50 0.123
16
P SCL018 Scoliosis 60 0.100
17
P VNT002 Ventricular Septal Defect 60 0.100
18
P EHL001 Ehlers-Danlos Syndrome 58 0.100
19
P HYP265 Hypotonia 43 0.100
20
c LRS002 Larsen-Like Syndrome 38 0.100
21
P HPT023 Hepatocellular Carcinoma 100 0.071
22
P HRT032 Heart Disease 75 0.071
23
HYP056 Hypoglycemia 66 0.071
24
P PSD087 Pseudoxanthoma Elasticum 65 0.071
25
P SHR029 Short Syndrome 63 0.071
26
c BRN108 Branchiootic Syndrome 1 62 0.071
27
P TRC086 Trichohepatoenteric Syndrome 1 62 0.071
28
ING001 Inguinal Hernia 60 0.071
29
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.071
30
P MYP006 Myopia 55 0.071
31
MYP159 Myopathy, Proximal, with Ophthalmoplegia 55 0.071
32
HYP706 Hypermobile Ehlers-Danlos Syndrome 53 0.071
33
P BRT029 Brittle Cornea Syndrome 2 50 0.071
34
c HRD202 Hereditary Lymphedema I 50 0.071
35
HRT011 Heart Septal Defect 50 0.071
36
c DSB006 Desbuquois Dysplasia 1 48 0.071
37
P CLL015 Collagen Disease 47 0.071
38
JNT004 Joint Laxity, Short Stature, and Myopia 45 0.071
39
SYN005 Synostosis 45 0.071
40
HPT082 Hepatic Adenomas, Familial 44 0.071
41
RFR003 Refractive Error 43 0.071
42
ORB013 Orbital Disease 42 0.071
43
c BRT038 Baraitser-Winter Syndrome 1 41 0.071
44
PCD001 Pica Disease 41 0.071
45
P MSC134 Musculocontractural Ehlers-Danlos Syndrome 40 0.071
46
ANG004 Angioid Streaks 39 0.071
47
ADP007 Adie Pupil 39 0.071
48
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 37 0.071
49
SPN331 Spondyloocular Syndrome 36 0.071
50
ENP001 Enophthalmos 35 0.071
51
PCT001 Pectus Carinatum 35 0.071
52
c CLR069 Ciliary Dyskinesia, Primary, 8 29 0.071
53
c CLR067 Ciliary Dyskinesia, Primary, 4 29 0.071
54
CNG065 Congenital Contractures 27 0.071
55
HNM002 Hinman Syndrome 27 0.071
56
c TYP003 Type I Ehlers-Danlos Syndrome 27 0.071
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