|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0100806)
|
Sepsis |
Frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
3
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
6
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0001944)
|
Dehydration |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
11
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
12
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
13
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
14
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
16
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
17
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
|
18
|
(OMIM)
|
Hypoplastic ears fused to the scalp |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0004399)
|
Congenital pyloric atresia |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Epidermolysis bullosa simplex |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Congenital absence of skin in some areas (aplasia cutis) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Extreme skin fragility |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Cleavage occurs within the lower part of basal keratinocytes |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Hemidesmosomes may be disrupted |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Absence of plectin-1 immunostaining |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
28
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
29
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|