1
|
(HPO:0007392)
|
Excessive wrinkled skin |
Very frequent [IBIS]
|
100% (n=12)
|
23315216
|
IBIS
|
2 / 7739
|
2
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [IBIS]
|
100% (n=12)
|
23315216
|
IBIS
|
355 / 7739
|
3
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [IBIS]
|
92% (n=12)
|
23315216
|
IBIS
|
169 / 7739
|
4
|
(HPO:0001433)
|
Hepatosplenomegaly |
Frequent [IBIS]
|
67% (n=33)
|
23315216
|
IBIS
|
78 / 7739
|
5
|
(HPO:0001903)
|
Anemia |
Frequent [IBIS]
|
64% (n=33)
|
23315216
|
IBIS
|
289 / 7739
|
6
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [IBIS]
|
64% (n=33)
|
23315216
|
IBIS
|
224 / 7739
|
7
|
(HPO:0001410)
|
Decreased liver function |
Frequent [IBIS]
|
58% (n=12)
|
23315216
|
IBIS
|
59 / 7739
|
8
|
(HPO:0001399)
|
Hepatic failure |
Frequent [IBIS]
|
55% (n=33)
|
23315216
|
IBIS
|
80 / 7739
|
9
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [IBIS]
|
17% (n=12)
|
23315216
|
IBIS
|
73 / 7739
|
10
|
(HPO:0003540)
|
Impaired platelet aggregation |
Occasional [IBIS]
|
15% (n=33)
|
23315216
|
IBIS
|
17 / 7739
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [IBIS]
|
8% (n=12)
|
23315216
|
IBIS
|
410 / 7739
|
12
|
(HPO:0000969)
|
Edema |
Occasional [IBIS]
|
8% (n=12)
|
23315216
|
IBIS
|
117 / 7739
|
13
|
(HPO:0001263)
|
Global developmental delay |
Occasional [IBIS]
|
2% (n=33)
|
23315216
|
IBIS
|
853 / 7739
|
14
|
(HPO:0100585)
|
Telangiectasia of the skin |
|
|
24497183
|
IBIS
|
66 / 7739
|
15
|
(HPO:0001394)
|
Cirrhosis |
|
|
18331807
|
IBIS
|
102 / 7739
|
16
|
(HPO:0001711)
|
Abnormality of the left ventricle |
|
|
23315216
|
IBIS
|
22 / 7739
|
17
|
(HPO:0001076)
|
Glabellar hemangioma |
|
|
23315216
|
IBIS
|
4 / 7739
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
23315216
|
IBIS
|
381 / 7739
|
19
|
(HPO:0000288)
|
Abnormality of the philtrum |
|
|
23315216
|
IBIS
|
54 / 7739
|
20
|
(HPO:0100876)
|
Infra-orbital crease |
|
|
23315216
|
IBIS
|
4 / 7739
|
21
|
(HPO:0000154)
|
Wide mouth |
|
|
23315216
|
IBIS
|
137 / 7739
|
22
|
(HPO:0002033)
|
Poor suck |
|
|
23315216
|
IBIS
|
37 / 7739
|
23
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
23315216
|
IBIS
|
31 / 7739
|
24
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
23315216
|
IBIS
|
228 / 7739
|
25
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
23315216
|
IBIS
|
67 / 7739
|
26
|
(HPO:0002240)
|
Hepatomegaly |
|
|
23315216
|
IBIS
|
467 / 7739
|
27
|
(HPO:0011950)
|
Bronchiolitis |
|
|
23315216
|
IBIS
|
8 / 7739
|
28
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
23315216
|
IBIS
|
85 / 7739
|
29
|
(HPO:0000790)
|
Hematuria |
|
|
23315216
|
IBIS
|
106 / 7739
|
30
|
(HPO:0001631)
|
Atria septal defect |
|
|
23315216
|
IBIS
|
274 / 7739
|
31
|
(HPO:0009762)
|
Facial wrinkling |
|
|
23315216
|
IBIS
|
3 / 7739
|
32
|
(HPO:0000322)
|
Short philtrum |
|
|
23315216
|
IBIS
|
130 / 7739
|
33
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
23315216
|
IBIS
|
59 / 7739
|
34
|
(HPO:0001876)
|
Pancytopenia |
|
|
23315216
|
IBIS
|
89 / 7739
|
35
|
(HPO:0002249)
|
Melena |
|
|
23315216
|
IBIS
|
11 / 7739
|
36
|
(HPO:0001875)
|
Neutropenia |
|
|
23315216
|
IBIS
|
83 / 7739
|
37
|
(HPO:0000973)
|
Cutis laxa |
|
|
23315216
|
IBIS
|
43 / 7739
|
38
|
(HPO:0001744)
|
Splenomegaly |
|
|
23315216
|
IBIS
|
337 / 7739
|
39
|
(HPO:0000421)
|
Epistaxis |
|
|
23315216
|
IBIS
|
85 / 7739
|
40
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
23315216
|
IBIS
|
44 / 7739
|
41
|
(HPO:0001510)
|
Growth delay |
|
|
23315216
|
IBIS
|
295 / 7739
|
42
|
(HPO:0000093)
|
Proteinuria |
|
|
25388407
|
IBIS
|
169 / 7739
|
43
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
25388407
|
IBIS
|
63 / 7739
|
44
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
25388407
|
IBIS
|
192 / 7739
|
45
|
(HPO:0030148)
|
Heart murmur |
|
|
23315216
|
IBIS
|
29 / 7739
|
46
|
(HPO:0000963)
|
Thin skin |
|
|
24497183
|
IBIS
|
96 / 7739
|
47
|
(HPO:0001194)
|
Abnormalities of placenta or umbilical cord |
|
|
24497183
|
IBIS
|
3 / 7739
|
48
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
24497183
|
IBIS
|
26 / 7739
|
49
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
26238251
|
IBIS
|
358 / 7739
|
50
|
(HPO:0000998)
|
Hypertrichosis |
|
|
26238251
|
IBIS
|
52 / 7739
|
51
|
(HPO:0000996)
|
Facial capillary hemangioma |
|
|
23315216
|
IBIS
|
4 / 7739
|
52
|
(HPO:0000369)
|
Low-set ears |
|
|
23315216
|
IBIS
|
372 / 7739
|
53
|
(HPO:0002002)
|
Deep philtrum |
|
|
23315216
|
IBIS
|
42 / 7739
|
54
|
(HPO:0000233)
|
Thin vermilion border |
|
|
23315216
|
IBIS
|
124 / 7739
|
55
|
(HPO:0001561)
|
Polyhydramnios |
|
|
23315216
|
IBIS
|
191 / 7739
|
56
|
(HPO:0000325)
|
Triangular face |
|
|
23315216
|
IBIS
|
91 / 7739
|
57
|
(HPO:0001582)
|
Redundant skin |
|
|
23315216
|
IBIS
|
51 / 7739
|
58
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
|
|
10 / 7739
|