1
|
(HPO:0011276)
|
Vascular skin abnormality |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
2
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
3
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
4
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
5
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
6
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
7
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
8
|
(HPO:0002039)
|
Anorexia |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
9
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
10
|
(HPO:0004326)
|
Cachexia |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
11
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
12
|
(HPO:0002225)
|
Sparse pubic hair |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
13
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
14
|
(HPO:0000221)
|
Furrowed tongue |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
15
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
16
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
18
|
(HPO:0001004)
|
Lymphedema |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
19
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
20
|
(HPO:0200008)
|
Intestinal polyposis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
21
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
22
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
23
|
(HPO:0000206)
|
Glossitis |
|
|
|
|
9 / 7739
|
24
|
(HPO:0000217)
|
Xerostomia |
|
|
|
|
35 / 7739
|
25
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
26
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
27
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
28
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
29
|
(HPO:0001907)
|
Thromboembolism |
|
|
|
|
15 / 7739
|
30
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
31
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
32
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
33
|
(HPO:0002243)
|
Protein-losing enteropathy |
|
|
|
|
8 / 7739
|
34
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
35
|
(HPO:0002672)
|
Gastrointestinal carcinoma |
|
|
|
|
3 / 7739
|
36
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
37
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
38
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
|
|
19 / 7739
|
39
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
40
|
(HPO:0004390)
|
Hamartomatous polyposis |
|
|
|
|
9 / 7739
|
41
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
42
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
43
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
|
|
40 / 7739
|
44
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
45
|
(OMIM)
|
Diminution of sense of taste |
|
|
|
|
1 / 7739
|
46
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
47
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
48
|
(HPO:0003075)
|
Hypoproteinemia |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
49
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
50
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
51
|
(HPO:0100273)
|
Neoplasm of the colon |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
52
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
53
|
(HPO:0100820)
|
Glomerulopathy |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
54
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
55
|
(HPO:0006753)
|
Neoplasm of the stomach |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
56
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
57
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
58
|
(HPO:0100833)
|
Neoplasm of the small intestine |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
59
|
(HPO:0001820)
|
Leukonychia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
60
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
61
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
62
|
(HPO:0002960)
|
Autoimmunity |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
63
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|