1
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [IBIS]
|
100% (n=11)
|
25358541
|
IBIS
|
169 / 7739
|
2
|
(HPO:0012209)
|
Juvenile myelomonocytic leukemia |
Frequent [IBIS]
|
75% (n=28)
|
25358541
|
IBIS
|
3 / 7739
|
3
|
(HPO:0000765)
|
Abnormality of the thorax |
Frequent [IBIS]
|
64% (n=11)
|
25358541
|
IBIS
|
64 / 7739
|
4
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [IBIS]
|
64% (n=11)
|
25358541
|
IBIS
|
355 / 7739
|
5
|
(HPO:0004322)
|
Short stature |
Frequent [IBIS]
rare [HPO:skoehler]
|
36% (n=28)
|
25358541
|
IBIS
|
1232 / 7739
|
6
|
(HPO:0000028)
|
Cryptorchidism |
Frequent [IBIS]
|
33% (n=12)
|
25358541
|
IBIS
|
347 / 7739
|
7
|
(HPO:0001263)
|
Global developmental delay |
Frequent [IBIS]
|
|
25358541
|
IBIS
|
853 / 7739
|
8
|
(HPO:0000750)
|
Delayed speech and language development |
Frequent [IBIS]
|
|
25358541
|
IBIS
|
197 / 7739
|
9
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [IBIS]
|
|
25358541
|
IBIS
|
949 / 7739
|
10
|
(HPO:0001270)
|
Motor delay |
Frequent [IBIS]
|
|
25358541
|
IBIS
|
322 / 7739
|
11
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [IBIS]
|
29% (n=28)
|
25358541
|
IBIS
|
84 / 7739
|
12
|
(HPO:0002202)
|
Pleural effusion |
Occasional [IBIS]
|
27% (n=11)
|
25358541
|
IBIS
|
22 / 7739
|
13
|
(HPO:0000252)
|
Microcephaly |
Occasional [IBIS]
|
18% (n=11)
|
25358541
|
IBIS
|
832 / 7739
|
14
|
(HPO:0000822)
|
Hypertension |
Occasional [IBIS]
|
14% (n=28)
|
25358541
|
IBIS
|
224 / 7739
|
15
|
(HPO:0001638)
|
Cardiomyopathy |
Rare [IBIS]
|
7% (n=28)
|
25358541
|
IBIS
|
192 / 7739
|
16
|
(HPO:0000286)
|
Epicanthus |
|
|
25358541
|
IBIS
|
371 / 7739
|
17
|
(HPO:0000316)
|
Hypertelorism |
|
|
25358541
|
IBIS
|
644 / 7739
|
18
|
(HPO:0000325)
|
Triangular face |
|
|
20543203
|
IBIS
|
91 / 7739
|
19
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
20619386
|
IBIS
|
163 / 7739
|
20
|
(HPO:0000369)
|
Low-set ears |
|
|
25358541
|
IBIS
|
372 / 7739
|
21
|
(HPO:0000470)
|
Short neck |
|
|
20619386
|
IBIS
|
345 / 7739
|
22
|
(HPO:0000508)
|
Ptosis |
|
|
25358541
|
IBIS
|
459 / 7739
|
23
|
(HPO:0000767)
|
Pectus excavatum |
|
|
25358541
|
IBIS
|
244 / 7739
|
24
|
(HPO:0001382)
|
Joint hypermobility |
|
|
20619386
|
IBIS
|
231 / 7739
|
25
|
(HPO:0001388)
|
Joint laxity |
|
|
20619386
|
IBIS
|
117 / 7739
|
26
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
20619386
|
IBIS
|
34 / 7739
|
27
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
20619386
|
IBIS
|
49 / 7739
|
28
|
(HPO:0002002)
|
Deep philtrum |
|
|
20543203
|
IBIS
|
42 / 7739
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
20694012
|
IBIS
|
381 / 7739
|
30
|
(HPO:0008070)
|
Sparse hair |
|
|
25358541
|
IBIS
|
94 / 7739
|
31
|
(HPO:0000343)
|
Long philtrum |
|
|
20619386
|
IBIS
|
262 / 7739
|
32
|
(HPO:0000465)
|
Webbed neck |
|
|
20619386
|
IBIS
|
81 / 7739
|
33
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
25358541
|
IBIS
|
328 / 7739
|
34
|
(HPO:0001004)
|
Lymphedema |
rare [HPO:skoehler]
|
|
25358541
|
IBIS
|
62 / 7739
|
35
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
25358541
|
IBIS
|
990 / 7739
|
36
|
(HPO:0001561)
|
Polyhydramnios |
rare [HPO:skoehler]
|
|
25358541
|
IBIS
|
191 / 7739
|
37
|
(HPO:0002007)
|
Frontal bossing |
|
|
20694012
|
IBIS
|
366 / 7739
|
38
|
(HPO:0002967)
|
Cubitus valgus |
|
|
20619386
|
IBIS
|
49 / 7739
|
39
|
(HPO:0010310)
|
Chylothorax |
rare [HPO:skoehler]
|
|
25358541
|
IBIS
|
6 / 7739
|
40
|
(HPO:0012471)
|
Thick vermilion border |
|
|
20543203
|
IBIS
|
115 / 7739
|
41
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
25358541
|
IBIS
|
63 / 7739
|
42
|
(HPO:0002098)
|
Respiratory distress |
|
|
25358541
|
IBIS
|
75 / 7739
|
43
|
(MedDRA:10022840)
|
Intraventricular haemorrhage |
|
|
25358541
|
IBIS
|
1 / 7739
|
44
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
25358541
|
IBIS
|
89 / 7739
|
45
|
(HPO:0000348)
|
High forehead |
|
|
25358541
|
IBIS
|
157 / 7739
|
46
|
(HPO:0000565)
|
Esotropia |
|
|
25358541
|
IBIS
|
58 / 7739
|
47
|
(HPO:0000483)
|
Astigmatism |
|
|
25358541
|
IBIS
|
67 / 7739
|
48
|
(HPO:0000540)
|
Hypermetropia |
|
|
25358541
|
IBIS
|
99 / 7739
|
49
|
(HPO:0001744)
|
Splenomegaly |
|
|
25358541
|
IBIS
|
337 / 7739
|
50
|
(HPO:0001081)
|
Cholelithiasis |
|
|
25358541
|
IBIS
|
36 / 7739
|
51
|
(HPO:0001385)
|
Hip dysplasia |
|
|
25358541
|
IBIS
|
242 / 7739
|
52
|
(HPO:0001288)
|
Gait disturbance |
|
|
25358541
|
IBIS
|
318 / 7739
|
53
|
(HPO:0000486)
|
Strabismus |
|
|
25358541
|
IBIS
|
576 / 7739
|
54
|
(HPO:0001743)
|
Abnormality of the spleen |
|
|
25358541
|
IBIS
|
37 / 7739
|
55
|
(MedDRA:10057471)
|
Spleen palpable |
|
|
25358541
|
IBIS
|
2 / 7739
|
56
|
(HPO:0000969)
|
Edema |
|
|
25358541
|
IBIS
|
117 / 7739
|
57
|
(HPO:0001541)
|
Ascites |
|
|
25358541
|
IBIS
|
94 / 7739
|
58
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
25358541
|
IBIS
|
78 / 7739
|
59
|
(HPO:0000961)
|
Cyanosis |
|
|
25358541
|
IBIS
|
60 / 7739
|
60
|
(HPO:0000034)
|
Hydrocele testis |
|
|
25358541
|
IBIS
|
18 / 7739
|
61
|
(HPO:0000473)
|
Torticollis |
|
|
25358541
|
IBIS
|
42 / 7739
|
62
|
(HPO:0011968)
|
Feeding difficulties |
|
|
25358541
|
IBIS
|
240 / 7739
|
63
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
25358541
|
IBIS
|
153 / 7739
|
64
|
(HPO:0000256)
|
Macrocephaly |
|
|
25358541
|
IBIS
|
298 / 7739
|
65
|
(HPO:0012703)
|
Abnormality of the subarachnoid space |
|
|
25358541
|
IBIS
|
1 / 7739
|
66
|
(HPO:0007036)
|
Hypoplasia of olfactory tract |
|
|
25358541
|
IBIS
|
2 / 7739
|
67
|
(OMIM)
|
Hypoplasia of the optic chiasm |
|
|
25358541
|
IBIS
|
2 / 7739
|
68
|
(HPO:0003198)
|
Myopathy |
|
|
25358541
|
IBIS
|
151 / 7739
|
69
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
25358541
|
IBIS
|
123 / 7739
|
70
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
25358541
|
IBIS
|
224 / 7739
|
71
|
(HPO:0012201)
|
Reduced prothrombin activity |
|
|
25358541
|
IBIS
|
4 / 7739
|
72
|
(HPO:0011858)
|
Reduced factor IX activity |
|
|
25358541
|
IBIS
|
7 / 7739
|
73
|
(HPO:0008321)
|
Reduced factor X activity |
|
|
25358541
|
IBIS
|
4 / 7739
|
74
|
(HPO:0004841)
|
Reduced factor XII activity |
|
|
25358541
|
IBIS
|
4 / 7739
|
75
|
(HPO:0004840)
|
Hypochromic microcytic anemia |
|
|
25358541
|
IBIS
|
15 / 7739
|
76
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
25358541
|
IBIS
|
42 / 7739
|
77
|
(HPO:0000534)
|
Abnormality of the eyebrow |
|
|
25358541
|
IBIS
|
39 / 7739
|
78
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
25358541
|
IBIS
|
38 / 7739
|
79
|
(HPO:0002162)
|
Low posterior hairline |
|
|
25358541
|
IBIS
|
88 / 7739
|
80
|
(HPO:0000297)
|
Facial hypotonia |
|
|
25358541
|
IBIS
|
8 / 7739
|
81
|
(HPO:0000768)
|
Pectus carinatum |
|
|
25358541
|
IBIS
|
136 / 7739
|
82
|
(OMIM)
|
Pes planovalgus |
|
|
25358541
|
IBIS
|
2 / 7739
|
83
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
25358541
|
IBIS
|
96 / 7739
|
84
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
25358541
|
IBIS
|
27 / 7739
|
85
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
25358541
|
IBIS
|
50 / 7739
|
86
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
25358541
|
IBIS
|
13 / 7739
|
87
|
(HPO:0001212)
|
Prominent fingertip pads |
|
|
25358541
|
IBIS
|
12 / 7739
|
88
|
(HPO:0001837)
|
Broad toe |
|
|
25358541
|
IBIS
|
13 / 7739
|
89
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
25358541
|
IBIS
|
75 / 7739
|
90
|
(HPO:0000421)
|
Epistaxis |
|
|
25358541
|
IBIS
|
85 / 7739
|
91
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
25358541
|
IBIS
|
85 / 7739
|
92
|
(MedDRA:10066239)
|
Mediastinal shift |
|
|
25358541
|
IBIS
|
1 / 7739
|
93
|
(HPO:0001631)
|
Atria septal defect |
|
|
25358541
|
IBIS
|
274 / 7739
|
94
|
(HPO:0000023)
|
Inguinal hernia |
|
|
25358541
|
IBIS
|
181 / 7739
|
95
|
(HPO:0012311)
|
Monocytosis |
|
|
25358541
|
IBIS
|
10 / 7739
|
96
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
25358541
|
IBIS
|
101 / 7739
|
97
|
(HPO:0006521)
|
Pulmonary lymphangiectasia |
|
|
25358541
|
IBIS
|
6 / 7739
|
98
|
(HPO:0011220)
|
Prominent forehead |
|
|
25358541
|
IBIS
|
137 / 7739
|
99
|
(HPO:0045026)
|
Abnormality of the mediastinum |
|
|
25358541
|
IBIS
|
6 / 7739
|
100
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
25358541
|
IBIS
|
26 / 7739
|