|
1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
4
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002583)
|
Colitis |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
7
|
(HPO:0007396)
|
Early cutaneous photosensitivity |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0010783)
|
Erythema |
|
|
|
|
138 / 7739
|
|
9
|
(OMIM)
|
Normal plasma zinc |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Severe colitis |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Refractory diarrhea |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|
|
13
|
(HPO:0200037)
|
Skin vesicle |
|
|
|
|
102 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|