Symptom Information: Sort according to HPO 

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