|
1
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000695)
|
Natal tooth |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0002592)
|
Gastric ulcer |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0001741)
|
Phimosis |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0004057)
|
Mitten deformity |
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0008094)
|
Widely spaced toes |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0009884)
|
Tapered distal phalanges of finger |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0100792)
|
Acantholysis |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0200041)
|
Skin erosion |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Phimosis, secondary to epidermolysis |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Progressive generalized skin erosions |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Cutis aplasia |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Suprabasal clefting |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Disconnection of keratin intermediate filaments from desmosomes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Nail loss |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Universal alopecia |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
20
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
21
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
22
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
|
25
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
26
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|