|
1
|
(HPO:0000071)
|
Ureteral stenosis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
2
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0100867)
|
Duodenal stenosis |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0001059)
|
Pterygium |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
10
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
11
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
12
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
|
|
|
|
34 / 7739
|
|
13
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0001057)
|
Aplasia cutis congenita |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0001060)
|
Axillary pterygia |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
|
19
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
|
20
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0002041)
|
Intractable diarrhea |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
23
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
24
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
25
|
(HPO:0003341)
|
Junctional split |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0004399)
|
Congenital pyloric atresia |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0005984)
|
Elevated maternal serum alpha-fetoprotein |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
29
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
30
|
(OMIM)
|
Rudimentary ear |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Oral lesions |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Esophageal lesions |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Pyelonephrosis |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Urethrovesical occlusion |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Stenosis at the ureterovesical junctions |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Epidermolysis bullosa junctional |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Congenital absence of skin on some areas (aplasia cutis) |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Extreme skin fragility |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Atrophic scarring |
|
|
|
|
9 / 7739
|
|
40
|
(OMIM)
|
Cleavage occurs within the lamina lucida |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Hemidesmosomes may be disrupted |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|