1
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
2
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
3
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
4
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
5
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
6
|
(HPO:0001029)
|
Poikiloderma |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
7
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
8
|
(HPO:0001874)
|
Abnormality of neutrophils |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
9
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
10
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
11
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
12
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
13
|
(HPO:0002863)
|
Myelodysplasia |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
14
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
15
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
16
|
(HPO:0008069)
|
Neoplasm of the skin |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
17
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
18
|
(HPO:0100242)
|
Sarcoma |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
19
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
20
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
21
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
22
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
23
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
24
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|