|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
3
|
(HPO:0002901)
|
Hypocalcemia |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0001089)
|
Iris atrophy |
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0012089)
|
Arteritis |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
8
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
9
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
11
|
(HPO:0005110)
|
Atrial fibrillation |
|
|
|
|
71 / 7739
|
|
12
|
(HPO:0005180)
|
Tricuspid regurgitation |
|
|
|
|
20 / 7739
|
|
13
|
(HPO:0007534)
|
Congenital posterior occipital alopecia |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0008720)
|
Primary testicular failure |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0011663)
|
Right ventricular cardiomyopathy |
|
|
|
|
17 / 7739
|
|
16
|
(OMIM)
|
Cutaneous collagenomas |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Recurrent vasculitis |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Chronic congestive heart failure |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
20
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
21
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
22
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
23
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0002633)
|
Vasculitis |
|
|
|
|
12 / 7739
|