1
|
(HPO:0001657)
|
Prolonged QT interval |
Very frequent [IBIS]
|
93% (n=15)
|
12163457
|
IBIS
|
33 / 7739
|
2
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [IBIS]
|
|
8080508
|
IBIS
|
169 / 7739
|
3
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [IBIS]
|
|
15911703
|
IBIS
|
226 / 7739
|
4
|
(HPO:0004308)
|
Ventricular arrhythmia |
Frequent [IBIS]
|
88% (n=17)
|
12163457
|
IBIS
|
46 / 7739
|
5
|
(OMIM)
|
Prominent U wave |
Frequent [IBIS]
|
76% (n=17)
|
12163457
|
IBIS
|
1 / 7739
|
6
|
(MedDRA:10055032)
|
Electrocardiogram U-wave abnormality |
Frequent [IBIS]
|
76% (n=17)
|
12163457
|
IBIS
|
2 / 7739
|
7
|
(HPO:0030084)
|
Clinodactyly |
Frequent [IBIS]
|
64% (n=36)
|
12163457
|
IBIS
|
90 / 7739
|
8
|
(HPO:0003768)
|
Periodic paralysis |
Frequent [IBIS]
|
50% (n=96)
|
15911703
|
IBIS
|
9 / 7739
|
9
|
(HPO:0000347)
|
Micrognathia |
Frequent [IBIS]
|
44% (n=36)
|
12163457
|
IBIS
|
426 / 7739
|
10
|
(HPO:0006682)
|
Ventricular extrasystoles |
Frequent [IBIS]
|
41% (n=96)
|
15911703
|
IBIS
|
25 / 7739
|
11
|
(HPO:0000369)
|
Low-set ears |
Frequent [IBIS]
|
39% (n=36)
|
12163457
|
IBIS
|
372 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Frequent [IBIS]
|
36% (n=36)
|
12163457
|
IBIS
|
644 / 7739
|
13
|
(HPO:0001279)
|
Syncope |
Frequent [IBIS]
|
11% (n=96)
|
15911703
|
IBIS
|
94 / 7739
|
14
|
(HPO:0004758)
|
Effort-induced polymorphic ventricular tachycardias |
Frequent [IBIS]
|
|
24827800
|
IBIS
|
3 / 7739
|
15
|
(HPO:0005150)
|
Abnormal atrioventricular conduction |
Occasional [IBIS]
|
23% (n=96)
|
15911703
|
IBIS
|
16 / 7739
|
16
|
(HPO:0002650)
|
Scoliosis |
Occasional [IBIS]
|
11% (n=36)
|
8080508
|
IBIS
|
705 / 7739
|
17
|
(HPO:0001159)
|
Syndactyly |
Occasional [IBIS]
|
11% (n=36)
|
12163457
|
IBIS
|
140 / 7739
|
18
|
(HPO:0011712)
|
Right bundle branch block |
Occasional [IBIS]
|
9% (n=96)
|
15911703
|
IBIS
|
34 / 7739
|
19
|
(HPO:0000175)
|
Cleft palate |
Occasional [IBIS]
|
8% (n=36)
|
16419128
|
IBIS
|
349 / 7739
|
20
|
(HPO:0005135)
|
EKG: T-wave abnormalities |
Occasional [IBIS]
|
|
15911703
|
IBIS
|
19 / 7739
|
21
|
(HPO:0010872)
|
EKG: T-wave inversion |
Rare [IBIS]
|
7% (n=96)
|
15911703
|
IBIS
|
19 / 7739
|
22
|
(HPO:0011705)
|
First degree atrioventricular block |
Rare [IBIS]
|
7% (n=96)
|
15911703
|
IBIS
|
13 / 7739
|
23
|
(HPO:0001962)
|
Palpitations |
Rare [IBIS]
|
5% (n=96)
|
15911703
|
IBIS
|
62 / 7739
|
24
|
(HPO:0001664)
|
Torsade de pointes |
Rare [IBIS]
|
3% (n=96)
|
15911703
|
IBIS
|
15 / 7739
|
25
|
(HPO:0001695)
|
Cardiac arrest |
Rare [IBIS]
|
3% (n=96)
|
15911703
|
IBIS
|
87 / 7739
|
26
|
(HPO:0011713)
|
Left bundle branch block |
Rare [IBIS]
|
2% (n=96)
|
15911703
|
IBIS
|
30 / 7739
|
27
|
(HPO:0001328)
|
Specific learning disability |
Rare [IBIS]
|
|
26448239
|
IBIS
|
114 / 7739
|
28
|
(HPO:0001645)
|
Sudden cardiac death |
Rare [IBIS]
|
|
24383070
|
IBIS
|
84 / 7739
|
29
|
(HPO:0100543)
|
Cognitive impairment |
Rare [IBIS]
|
|
24383070
|
IBIS
|
230 / 7739
|
30
|
(HPO:0002705)
|
High, narrow palate |
|
|
16419128
|
IBIS
|
308 / 7739
|
31
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
16419128
|
IBIS
|
112 / 7739
|
32
|
(HPO:0000233)
|
Thin vermilion border |
|
|
16419128
|
IBIS
|
124 / 7739
|
33
|
(HPO:0000272)
|
Malar flattening |
|
|
16419128
|
IBIS
|
277 / 7739
|
34
|
(HPO:0000325)
|
Triangular face |
|
|
16419128
|
IBIS
|
91 / 7739
|
35
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
16419128
|
IBIS
|
129 / 7739
|
36
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
16419128
|
IBIS
|
18 / 7739
|
37
|
(HPO:0000337)
|
Broad forehead |
|
|
24383070
|
IBIS
|
116 / 7739
|
38
|
(HPO:0000414)
|
Bulbous nose |
|
|
16419128
|
IBIS
|
63 / 7739
|
39
|
(HPO:0000455)
|
Broad nasal tip |
|
|
16419128
|
IBIS
|
67 / 7739
|
40
|
(HPO:0000677)
|
Oligodontia |
|
|
16419128
|
IBIS
|
41 / 7739
|
41
|
(HPO:0000696)
|
Delayed eruption of permanent teeth |
|
|
16419128
|
IBIS
|
12 / 7739
|
42
|
(HPO:0001388)
|
Joint laxity |
|
|
16419128
|
IBIS
|
117 / 7739
|
43
|
(HPO:0001507)
|
Growth abnormality |
|
|
16419128
|
IBIS
|
36 / 7739
|
44
|
(HPO:0001770)
|
Toe syndactyly |
|
|
16419128
|
IBIS
|
149 / 7739
|
45
|
(HPO:0001864)
|
Clinodactyly of the 5th toe |
|
|
16419128
|
IBIS
|
6 / 7739
|
46
|
(HPO:0003691)
|
Scapular winging |
|
|
16419128
|
IBIS
|
51 / 7739
|
47
|
(HPO:0003778)
|
Short mandibular rami |
|
|
16419128
|
IBIS
|
7 / 7739
|
48
|
(HPO:0003779)
|
Antegonial notching of mandible |
|
|
16419128
|
IBIS
|
2 / 7739
|
49
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
16419128
|
IBIS
|
288 / 7739
|
50
|
(HPO:0004279)
|
Short palm |
|
|
16419128
|
IBIS
|
323 / 7739
|
51
|
(HPO:0005147)
|
Bidirectional ventricular ectopy |
|
|
16419128
|
IBIS
|
2 / 7739
|
52
|
(HPO:0005478)
|
Prominent frontal sinuses |
|
|
16419128
|
IBIS
|
1 / 7739
|
53
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
16419128
|
IBIS
|
64 / 7739
|
54
|
(HPO:0008153)
|
Periodic hypokalemic paresis |
|
|
25284084
|
IBIS
|
4 / 7739
|
55
|
(HPO:0009381)
|
Short finger |
|
|
16419128
|
IBIS
|
45 / 7739
|
56
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
16419128
|
IBIS
|
79 / 7739
|
57
|
(HPO:0011927)
|
Short digit |
|
|
16419128
|
IBIS
|
17 / 7739
|
58
|
(HPO:0010049)
|
Short metacarpal |
|
|
16419128
|
IBIS
|
99 / 7739
|
59
|
(HPO:0010743)
|
Short metatarsal |
|
|
16419128
|
IBIS
|
56 / 7739
|
60
|
(HPO:0200055)
|
Small hand |
|
|
16419128
|
IBIS
|
71 / 7739
|
61
|
(OMIM)
|
Facial asymmetry, mild |
|
|
8080508
|
IBIS
|
5 / 7739
|
62
|
(OMIM)
|
Elongated roots with open apices |
|
|
16419128
|
IBIS
|
1 / 7739
|
63
|
(OMIM)
|
Anterior crossbite |
|
|
16419128
|
IBIS
|
1 / 7739
|
64
|
(OMIM)
|
Prolonged QTc |
|
|
8080508
|
IBIS
|
1 / 7739
|
65
|
(OMIM)
|
Gracile ribs |
|
|
16419128
|
IBIS
|
1 / 7739
|
66
|
(OMIM)
|
Condylar resorption |
|
|
16419128
|
IBIS
|
1 / 7739
|
67
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
16419128
|
IBIS
|
153 / 7739
|
68
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
16419128
|
IBIS
|
50 / 7739
|
69
|
(OMIM)
|
Learning disabilities, mild (some patients) |
|
|
26448239
|
IBIS
|
1 / 7739
|
70
|
(HPO:0000716)
|
Depression |
|
|
16419128
|
IBIS
|
99 / 7739
|
71
|
(HPO:0000278)
|
Retrognathia |
|
|
26448239
|
IBIS
|
100 / 7739
|
72
|
(HPO:0002373)
|
Febrile seizures |
|
|
26448239
|
IBIS
|
37 / 7739
|
73
|
(HPO:0004756)
|
Ventricular tachycardia |
|
|
26448239
|
IBIS
|
55 / 7739
|
74
|
(HPO:0004322)
|
Short stature |
|
|
8080508
|
IBIS
|
1232 / 7739
|
75
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
8080508
|
IBIS
|
214 / 7739
|
76
|
(HPO:0100301)
|
Muscle fiber tubular inclusions |
|
|
8080508
|
IBIS
|
1 / 7739
|
77
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
26448239
|
IBIS
|
41 / 7739
|
78
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
25284084
|
IBIS
|
160 / 7739
|
79
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
24383070
|
IBIS
|
141 / 7739
|
80
|
(HPO:0002486)
|
Myotonia |
|
|
24383070
|
IBIS
|
29 / 7739
|
81
|
(HPO:0000445)
|
Wide nose |
|
|
24383070
|
IBIS
|
190 / 7739
|
82
|
(HPO:0000174)
|
Abnormality of the palate |
|
|
24383070
|
IBIS
|
298 / 7739
|
83
|
(HPO:0000268)
|
Dolichocephaly |
|
|
24383070
|
IBIS
|
144 / 7739
|
84
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
16419128
|
IBIS
|
13 / 7739
|
85
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
16419128
|
IBIS
|
180 / 7739
|