|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
3
|
(HPO:0001025)
|
Urticaria |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
4
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
5
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
7
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
8
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0007381)
|
Congenital exfoliative erythroderma |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
11
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|