1
|
(HPO:0001657)
|
Prolonged QT interval |
Very frequent [IBIS]
|
100% (n=17)
|
15454078
|
IBIS
|
33 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [IBIS]
|
100% (n=17)
|
15454078
|
IBIS
|
291 / 7739
|
3
|
(HPO:0001678)
|
Atrioventricular block |
Very frequent [IBIS]
|
94% (n=17)
|
15454078
|
IBIS
|
59 / 7739
|
4
|
(HPO:0000729)
|
Autistic behavior |
Frequent [IBIS]
|
80% (n=17)
|
15454078
|
IBIS
|
27 / 7739
|
5
|
(HPO:0004756)
|
Ventricular tachycardia |
Frequent [IBIS]
|
71% (n=17)
|
15454078
|
IBIS
|
55 / 7739
|
6
|
(HPO:0000717)
|
Autism |
Frequent [IBIS]
|
60% (n=17)
|
15454078
|
IBIS
|
108 / 7739
|
7
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [IBIS]
|
59% (n=17)
|
15454078
|
IBIS
|
228 / 7739
|
8
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [IBIS]
|
53% (n=17)
|
15454078
|
IBIS
|
108 / 7739
|
9
|
(HPO:0002719)
|
Recurrent infections |
Frequent [IBIS]
|
43% (n=17)
|
15454078
|
IBIS
|
107 / 7739
|
10
|
(HPO:0002721)
|
Immunodeficiency |
Frequent [IBIS]
|
43% (n=17)
|
15454078
|
IBIS
|
97 / 7739
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
40% (n=17)
|
15454078
|
IBIS
|
990 / 7739
|
12
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [IBIS]
|
36% (n=17)
|
15454078
|
IBIS
|
131 / 7739
|
13
|
(HPO:0001640)
|
Cardiomegaly |
Frequent [IBIS]
|
35% (n=17)
|
15454078
|
IBIS
|
81 / 7739
|
14
|
(HPO:0002901)
|
Hypocalcemia |
Frequent [IBIS]
|
33% (n=17)
|
15454078
|
IBIS
|
56 / 7739
|
15
|
(HPO:0002045)
|
Hypothermia |
Frequent [IBIS]
|
33% (n=17)
|
15454078
|
IBIS
|
27 / 7739
|
16
|
(HPO:0001159)
|
Syndactyly |
Frequent [IBIS]
|
|
26227324
|
IBIS
|
140 / 7739
|
17
|
(HPO:0001655)
|
Patent foramen ovale |
Occasional [IBIS]
|
29% (n=17)
|
15454078
|
IBIS
|
31 / 7739
|
18
|
(HPO:0000246)
|
Sinusitis |
Occasional [IBIS]
|
29% (n=17)
|
15454078
|
IBIS
|
73 / 7739
|
19
|
(HPO:0001249)
|
Intellectual disability |
Occasional [IBIS]
|
25% (n=17)
|
15454078
|
IBIS
|
1089 / 7739
|
20
|
(HPO:0000545)
|
Myopia |
Occasional [IBIS]
|
25% (n=17)
|
15454078
|
IBIS
|
286 / 7739
|
21
|
(HPO:0001250)
|
Seizures |
Occasional [IBIS]
|
21% (n=17)
|
15454078
|
IBIS
|
1245 / 7739
|
22
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [IBIS]
|
21% (n=17)
|
15454078
|
IBIS
|
109 / 7739
|
23
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [IBIS]
|
18% (n=17)
|
15454078
|
IBIS
|
316 / 7739
|
24
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [IBIS]
|
8% (n=17)
|
15454078
|
IBIS
|
141 / 7739
|
25
|
(HPO:0001636)
|
Tetralogy of Fallot |
Rare [IBIS]
|
6% (n=17)
|
15454078
|
IBIS
|
104 / 7739
|
26
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
24960393
|
IBIS
|
84 / 7739
|
27
|
(HPO:0001770)
|
Toe syndactyly |
|
|
26227324
|
IBIS
|
149 / 7739
|
28
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
24960393
|
IBIS
|
50 / 7739
|
29
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
26227324
|
IBIS
|
36 / 7739
|
30
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
26227324
|
IBIS
|
355 / 7739
|
31
|
(HPO:0001263)
|
Global developmental delay |
|
|
26227324
|
IBIS
|
853 / 7739
|
32
|
(HPO:0004308)
|
Ventricular arrhythmia |
|
|
26227324
|
IBIS
|
46 / 7739
|
33
|
(HPO:0002828)
|
Multiple joint contractures |
|
|
26227324
|
IBIS
|
16 / 7739
|
34
|
(HPO:0001662)
|
Bradycardia |
|
|
26227324
|
IBIS
|
41 / 7739
|
35
|
(HPO:0011709)
|
Atrioventricular dissociation |
|
|
26227324
|
IBIS
|
3 / 7739
|
36
|
(HPO:0012266)
|
T-wave alternans |
|
|
26227324
|
IBIS
|
8 / 7739
|
37
|
(HPO:0011600)
|
Abnormal direction of ventricular apex |
|
|
26227324
|
IBIS
|
1 / 7739
|
38
|
(HPO:0002015)
|
Dysphagia |
|
|
26227324
|
IBIS
|
301 / 7739
|
39
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
26227324
|
IBIS
|
101 / 7739
|
40
|
(HPO:0002019)
|
Constipation |
|
|
26227324
|
IBIS
|
194 / 7739
|
41
|
(HPO:0002292)
|
Frontal balding |
|
|
26227324
|
IBIS
|
4 / 7739
|
42
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
26227324
|
IBIS
|
290 / 7739
|
43
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
26227324
|
IBIS
|
112 / 7739
|
44
|
(OMIM)
|
Broad finger tips |
|
|
26227324
|
IBIS
|
2 / 7739
|
45
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
26227324
|
IBIS
|
22 / 7739
|
46
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
26227324
|
IBIS
|
26 / 7739
|
47
|
(HPO:0000565)
|
Esotropia |
|
|
26227324
|
IBIS
|
58 / 7739
|
48
|
(HPO:0001664)
|
Torsade de pointes |
|
|
26227324
|
IBIS
|
15 / 7739
|
49
|
(HPO:0000316)
|
Hypertelorism |
|
|
26227324
|
IBIS
|
644 / 7739
|
50
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
26227324
|
IBIS
|
39 / 7739
|
51
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
24960393
|
IBIS
|
137 / 7739
|
52
|
(HPO:0000369)
|
Low-set ears |
|
|
24960393
|
IBIS
|
372 / 7739
|
53
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
24960393
|
IBIS
|
381 / 7739
|
54
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
24960393
|
IBIS
|
129 / 7739
|
55
|
(HPO:0000682)
|
Abnormality of dental enamel |
|
|
24960393
|
IBIS
|
102 / 7739
|
56
|
(HPO:0011073)
|
Abnormality of dental color |
|
|
24960393
|
IBIS
|
24 / 7739
|
57
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
24960393
|
IBIS
|
25 / 7739
|
58
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
24960393
|
IBIS
|
64 / 7739
|
59
|
(HPO:0001279)
|
Syncope |
|
|
16876748
|
IBIS
|
94 / 7739
|