|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
3
|
(HPO:0001637)
|
Abnormality of the myocardium |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
4
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0005244)
|
Gastrointestinal infarctions |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
7
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
8
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
|
11
|
(HPO:0001297)
|
Stroke |
|
|
19249895
|
IBIS
|
44 / 7739
|
|
12
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
13
|
(HPO:0100749)
|
Chest pain |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
14
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0000651)
|
Diplopia |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
16
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
17
|
(HPO:0002202)
|
Pleural effusion |
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
19
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
20
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
21
|
(HPO:0012089)
|
Arteritis |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
22
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
23
|
(HPO:0004420)
|
Arterial thrombosis |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
24
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
25
|
(HPO:0100819)
|
Intestinal fistula |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
27
|
(HPO:0100592)
|
Peritoneal abscess |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
28
|
(HPO:0200034)
|
Papule |
|
|
19249895
|
IBIS
|
12 / 7739
|
|
29
|
(HPO:0100576)
|
Amaurosis fugax |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
30
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
31
|
(HPO:0000502)
|
Abnormality of the conjunctiva |
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
33
|
(HPO:0002563)
|
Constrictive pericarditis |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
35
|
(OMIM)
|
Avascular patches on conjunctiva and other eye regions |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Multiple asymptomatic papules with atrophic white scar-like centers surrounded by telangiectatic borders |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Wedge-shaped necrosis from epidermis through dermis |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
CNS infarctions |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0002242)
|
Abnormality of the intestine |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
40
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
41
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
42
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
43
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
44
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|