|
1
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
2
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
5
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
6
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
7
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0007548)
|
Palmoplantar keratosis with erythema and scale |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
10
|
(OMIM)
|
Normal |
|
|
|
|
14 / 7739
|
|
11
|
(OMIM)
|
Fragility with blistering (neonatal onset) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Hyperkeratotic plaques on trunk and limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Peripheral and cytoplasmic desmoplakin staining (immunohistochemistry) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Acantholysis throughout all layers of the skin |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Focal detachment of desmosomes into the intercellular spaces |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Perinuclear condensation of the suprabasal keratin intermediate filament network |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|