|
1
|
(HPO:0100758)
|
Gangrene |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
5
|
(HPO:0003394)
|
Muscle cramps |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
6
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
7
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
8
|
(OMIM)
|
Abnormal tonofibrils with formation of concentric unbroken shells of tonofilaments surrounding the nucleus on EM |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Ichthyosis hystrix |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|