|
1
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
3
|
(HPO:0001581)
|
Recurrent skin infections |
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
5
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
6
|
(OMIM)
|
Pulmonic stenosis, mild (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Esophagitis, eosinophilic (in some patients) |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
9
|
(OMIM)
|
Erythroderma, generalized congenital |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Erosions |
|
|
|
|
5 / 7739
|
|
11
|
(OMIM)
|
Scaling |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Hyperkeratotic yellowish papules and plaques arranged linearly on palms and fingers |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Hyperkeratosis of weight-bearing areas of soles |
|
|
|
|
1 / 7739
|
|
14
|
(MedDRA:10058675)
|
Dermatitis psoriasiform |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Alternating parakeratosis and orthokeratosis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Alternating hypogranulosis and hypergranulosis |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Widespread acantholysis within spinous and granular layers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Subcorneal and intragranular separation |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Uneven distribution of desmosomes in upper epidermis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Markedly elevated IgE levels |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Recurrent skin and respiratory infections |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Severe hypernatremia in neonatal period |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|
|
25
|
(HPO:0003228)
|
Hypernatremia |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0100792)
|
Acantholysis |
|
|
|
|
11 / 7739
|