|
1
|
(HPO:0001699)
|
Sudden death |
Frequent [IBIS]
|
33% (n=10)
|
15996213
|
IBIS
|
34 / 7739
|
|
2
|
(HPO:0001156)
|
Brachydactyly syndrome |
Occasional [IBIS]
|
10% (n=10)
|
15996213
|
IBIS
|
180 / 7739
|
|
3
|
(HPO:0001159)
|
Syndactyly |
|
|
15996213
|
IBIS
|
140 / 7739
|
|
4
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
15996213
|
IBIS
|
141 / 7739
|
|
5
|
(HPO:0003198)
|
Myopathy |
rare [HPO:skoehler]
|
|
18611980
|
IBIS
|
151 / 7739
|
|
6
|
(HPO:0010239)
|
Aplasia of the middle phalanx of the hand |
|
|
15996213
|
IBIS
|
3 / 7739
|
|
7
|
(OMIM)
|
Conduction disease, sinoatrial and atrioventricular, progressive |
|
|
15996213
|
IBIS
|
1 / 7739
|
|
8
|
(MedDRA:10065341)
|
Ventricular tachyarrhythmia |
|
|
15996213
|
IBIS
|
2 / 7739
|
|
9
|
(OMIM)
|
Short or absent middle phalanges |
|
|
15996213
|
IBIS
|
1 / 7739
|
|
10
|
(HPO:0001204)
|
Distal symphalangism of hands |
|
|
15996213
|
IBIS
|
13 / 7739
|
|
11
|
(OMIM)
|
Duplication of bases of second metatarsals |
|
|
15996213
|
IBIS
|
1 / 7739
|
|
12
|
(OMIM)
|
Extra ossicles |
|
|
15996213
|
IBIS
|
1 / 7739
|
|
13
|
(OMIM)
|
Proximal weakness, upper extremities (1 patient) |
|
|
15996213
|
IBIS
|
1 / 7739
|
|
14
|
(HPO:0030084)
|
Clinodactyly |
|
|
15996213
|
IBIS
|
90 / 7739
|