|
1
|
(HPO:0001635)
|
Congestive heart failure |
Very frequent [IBIS]
|
|
22814392
|
IBIS
|
232 / 7739
|
|
2
|
(HPO:0001640)
|
Cardiomegaly |
Very frequent [IBIS]
|
|
22814392
|
IBIS
|
81 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [IBIS]
|
|
22814392
|
IBIS
|
1089 / 7739
|
|
4
|
(HPO:0000053)
|
Macroorchidism |
|
|
22814392
|
IBIS
|
18 / 7739
|
|
5
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
22814392
|
IBIS
|
278 / 7739
|
|
6
|
(HPO:0000400)
|
Macrotia |
|
|
22814392
|
IBIS
|
108 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
22814392
|
IBIS
|
1245 / 7739
|
|
8
|
(HPO:0001257)
|
Spasticity |
rare [HPO:skoehler]
|
|
22814392
|
IBIS
|
251 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
22814392
|
IBIS
|
853 / 7739
|
|
10
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
22814392
|
IBIS
|
44 / 7739
|
|
11
|
(HPO:0002751)
|
Kyphoscoliosis |
rare [HPO:skoehler]
|
|
22814392
|
IBIS
|
131 / 7739
|
|
12
|
(HPO:0004749)
|
Atrial flutter |
rare [HPO:skoehler]
|
|
22814392
|
IBIS
|
20 / 7739
|
|
13
|
(HPO:0005781)
|
Contractures of the large joints |
|
|
22814392
|
IBIS
|
2 / 7739
|
|
14
|
(OMIM)
|
Valvular insufficiency |
|
|
22814392
|
IBIS
|
2 / 7739
|
|
15
|
(OMIM)
|
Abnormal positioning of the thumbs |
|
|
22814392
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0001344)
|
Absent speech |
|
|
22814392
|
IBIS
|
57 / 7739
|
|
17
|
(HPO:0005110)
|
Atrial fibrillation |
|
|
22814392
|
IBIS
|
71 / 7739
|
|
18
|
(HPO:0001172)
|
Abnormality of the thumb |
|
|
22814392
|
IBIS
|
103 / 7739
|
|
19
|
(HPO:0002828)
|
Multiple joint contractures |
|
|
22814392
|
IBIS
|
16 / 7739
|
|
20
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
22814392
|
IBIS
|
54 / 7739
|
|
21
|
(HPO:0005293)
|
Venous insufficiency |
|
|
22814392
|
IBIS
|
27 / 7739
|
|
22
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
22814392
|
IBIS
|
49 / 7739
|