|
1
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [IBIS]
|
100%(n=8)
|
16523510
|
IBIS
|
644 / 7739
|
|
2
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [IBIS]
|
87%(n=8)
|
16523510
|
IBIS
|
98 / 7739
|
|
3
|
(HPO:0001003)
|
Multiple lentigines |
Frequent [IBIS]
|
79%(n=19)
|
24775816
|
IBIS
|
11 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
Frequent [IBIS]
|
79%(n=19)
|
24775816
|
IBIS
|
853 / 7739
|
|
5
|
(HPO:0011675)
|
Arrhythmia |
Frequent [IBIS]
|
75%
|
18505544
|
IBIS
|
226 / 7739
|
|
6
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Frequent [IBIS]
|
63%(n=19)
|
24775816
|
IBIS
|
137 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
63%(n=8)
|
16523510
|
IBIS
|
990 / 7739
|
|
8
|
(HPO:0000957)
|
Cafe-au-lait spot |
Frequent [IBIS]
|
50%
|
18505544
|
IBIS
|
84 / 7739
|
|
9
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [IBIS]
|
42%
|
18505544
|
IBIS
|
355 / 7739
|
|
10
|
(HPO:0001510)
|
Growth delay |
Frequent [IBIS]
|
|
18505544
|
IBIS
|
295 / 7739
|
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [IBIS]
|
|
18505544
|
IBIS
|
381 / 7739
|
|
12
|
(HPO:0001642)
|
Pulmonic stenosis |
Occasional [IBIS]
|
32%(n=19)
|
24775816
|
IBIS
|
89 / 7739
|
|
13
|
(HPO:0001328)
|
Specific learning disability |
Occasional [IBIS]
|
30%
|
18505544
|
IBIS
|
114 / 7739
|
|
14
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [IBIS]
|
26%(n=19)
|
24775816
|
IBIS
|
244 / 7739
|
|
15
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [IBIS]
|
20%
|
18505544
|
IBIS
|
524 / 7739
|
|
16
|
(HPO:0000768)
|
Pectus carinatum |
Rare [IBIS]
|
5%(n=19)
|
24775816
|
IBIS
|
136 / 7739
|
|
17
|
(HPO:0000914)
|
Shield chest |
Rare [IBIS]
|
5%(n=19)
|
24775816
|
IBIS
|
14 / 7739
|
|
18
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
Rare [IBIS]
|
5%(n=19)
|
24775816
|
IBIS
|
21 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
Rare [IBIS]
|
|
18505544
|
IBIS
|
705 / 7739
|
|
20
|
(HPO:0000303)
|
Mandibular prognathia |
Rare [IBIS]
|
|
18505544
|
IBIS
|
179 / 7739
|
|
21
|
(HPO:0005692)
|
Joint hyperflexibility |
Rare [IBIS]
|
|
18505544
|
IBIS
|
20 / 7739
|
|
22
|
(HPO:0000077)
|
Abnormality of the kidney |
Rare [IBIS]
|
|
18505544
|
IBIS
|
73 / 7739
|
|
23
|
(HPO:0000465)
|
Webbed neck |
Frequent [Orphanet]
|
|
18505544
|
IBIS
|
81 / 7739
|
|
24
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
23239957
|
IBIS
|
59 / 7739
|
|
25
|
(HPO:0100678)
|
Premature skin wrinkling |
Occasional [Orphanet]
|
|
23239957
|
IBIS
|
25 / 7739
|
|
26
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
18505544
|
IBIS
|
250 / 7739
|
|
27
|
(HPO:0000823)
|
Delayed puberty |
|
|
18505544
|
IBIS
|
65 / 7739
|
|
28
|
(HPO:0003691)
|
Scapular winging |
|
|
23239957
|
IBIS
|
51 / 7739
|
|
29
|
(HPO:0008724)
|
Hypoplasia of the ovary |
|
|
18505544
|
IBIS
|
6 / 7739
|
|
30
|
(HPO:0011710)
|
Bundle branch block |
|
|
23239957
|
IBIS
|
14 / 7739
|
|
31
|
(HPO:0005989)
|
Redundant neck skin |
|
|
18505544
|
IBIS
|
40 / 7739
|
|
32
|
(HPO:0012471)
|
Thick vermilion border |
|
|
18505544
|
IBIS
|
115 / 7739
|
|
33
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
18505544
|
IBIS
|
25 / 7739
|
|
34
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
18505544
|
IBIS
|
38 / 7739
|
|
35
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
23239957
|
IBIS
|
76 / 7739
|
|
36
|
(HPO:0001667)
|
Right ventricular hypertrophy |
|
|
23239957
|
IBIS
|
23 / 7739
|