|
1
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
2
|
(HPO:0000969)
|
Edema |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
|
3
|
(HPO:0000987)
|
Atypical scarring of skin |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
4
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
5
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
7
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0001397)
|
Hepatic steatosis |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0002896)
|
Neoplasm of the liver |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
11
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
12
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
13
|
(HPO:0100021)
|
Cerebral palsy |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
14
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
15
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
16
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
17
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
20
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
21
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
22
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
23
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
24
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
25
|
(HPO:0010473)
|
Porphyrinuria |
|
|
|
|
2 / 7739
|