1
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
2
|
(HPO:0100825)
|
Cheilitis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
4
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
5
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
6
|
(HPO:0008388)
|
Abnormality of the toenails |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
7
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
8
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
9
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
10
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
11
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
12
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
13
|
(HPO:0002043)
|
Esophageal stricture |
|
|
|
|
7 / 7739
|
14
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
15
|
(HPO:0010450)
|
Esophageal stenosis |
|
|
|
|
7 / 7739
|
16
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
17
|
(HPO:0010296)
|
Ankyloglossia |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
18
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
19
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
20
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
21
|
(HPO:0002019)
|
Constipation |
Occasional [Orphanet]
|
|
|
|
194 / 7739
|
22
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
23
|
(HPO:0000142)
|
Abnormality of the vagina |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
24
|
(HPO:0000080)
|
Abnormality of reproductive system physiology |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
25
|
(HPO:0000559)
|
Corneal scarring |
|
|
|
|
9 / 7739
|
26
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
27
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
28
|
(HPO:0002860)
|
Squamous cell carcinoma |
|
|
|
|
18 / 7739
|
29
|
(HPO:0004057)
|
Mitten deformity |
|
|
|
|
3 / 7739
|
30
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
31
|
(HPO:0008069)
|
Neoplasm of the skin |
|
|
|
|
84 / 7739
|
32
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
33
|
(OMIM)
|
Poor growth due to poor nutrition |
|
|
|
|
2 / 7739
|
34
|
(MedDRA:10010984)
|
Corneal abrasion |
|
|
|
|
4 / 7739
|
35
|
(OMIM)
|
Eyelid ulcerations |
|
|
|
|
2 / 7739
|
36
|
(OMIM)
|
Oral blisters |
|
|
|
|
2 / 7739
|
37
|
(OMIM)
|
Lingual adhesions |
|
|
|
|
2 / 7739
|
38
|
(OMIM)
|
Esophageal blisters |
|
|
|
|
2 / 7739
|
39
|
(OMIM)
|
Anal blisters |
|
|
|
|
2 / 7739
|
40
|
(OMIM)
|
Digital fusion |
|
|
|
|
2 / 7739
|
41
|
(OMIM)
|
Dystrophic epidermolysis bullosa |
|
|
|
|
6 / 7739
|
42
|
(OMIM)
|
Blistering, recurrent |
|
|
|
|
5 / 7739
|
43
|
(OMIM)
|
Erosions |
|
|
|
|
5 / 7739
|
44
|
(OMIM)
|
Atrophic scarring, severe |
|
|
|
|
2 / 7739
|
45
|
(OMIM)
|
Mucosal lesions |
|
|
|
|
3 / 7739
|
46
|
(OMIM)
|
Albopapuloid lesions may occur |
|
|
|
|
4 / 7739
|
47
|
(OMIM)
|
Congenital absence of skin in areas |
|
|
|
|
2 / 7739
|
48
|
(OMIM)
|
Sublamina densa level of tissue separation beneath basal membrane |
|
|
|
|
5 / 7739
|
49
|
(OMIM)
|
Decreased number or absence of anchoring fibrils at dermal-epidermal junction |
|
|
|
|
2 / 7739
|
50
|
(OMIM)
|
Hypotrophic anchoring fibrils |
|
|
|
|
5 / 7739
|
51
|
(OMIM)
|
Decreased staining for collagen VII |
|
|
|
|
3 / 7739
|
52
|
(MedDRA:10068058)
|
Nail atrophy |
|
|
|
|
4 / 7739
|
53
|
(OMIM)
|
Loss of nails |
|
|
|
|
3 / 7739
|
54
|
(OMIM)
|
Anemia due to poor nutrition |
|
|
|
|
2 / 7739
|
55
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
56
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
57
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
58
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
59
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
60
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
61
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
62
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
63
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|