|
1
|
(HPO:0004378)
|
Abnormality of the anus |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
4
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
5
|
(HPO:0001760)
|
Abnormality of the foot |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
9
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
|
|
297 / 7739
|
|
10
|
(HPO:0000498)
|
Blepharitis |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
13
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
14
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0002043)
|
Esophageal stricture |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
17
|
(HPO:0010450)
|
Esophageal stenosis |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
19
|
(HPO:0010296)
|
Ankyloglossia |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
21
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
22
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
23
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
24
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
25
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
26
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
27
|
(HPO:0000559)
|
Corneal scarring |
|
|
|
|
9 / 7739
|
|
28
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
29
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
|
30
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
31
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
32
|
(HPO:0002860)
|
Squamous cell carcinoma |
|
|
|
|
18 / 7739
|
|
33
|
(HPO:0004057)
|
Mitten deformity |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
35
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0005203)
|
Spontaneous esophageal perforation |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
38
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
39
|
(HPO:0008069)
|
Neoplasm of the skin |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
40
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
41
|
(OMIM)
|
Poor growth due to poor nutrition |
|
|
|
|
2 / 7739
|
|
42
|
(MedDRA:10010984)
|
Corneal abrasion |
|
|
|
|
4 / 7739
|
|
43
|
(OMIM)
|
Eyelid ulcerations |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Oral blisters |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Lingual adhesions |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Esophageal blisters |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Anal blisters |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Digital fusion |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Dystrophic epidermolysis bullosa |
|
|
|
|
6 / 7739
|
|
50
|
(OMIM)
|
Blistering, recurrent |
|
|
|
|
5 / 7739
|
|
51
|
(OMIM)
|
Erosions |
|
|
|
|
5 / 7739
|
|
52
|
(OMIM)
|
Atrophic scarring, severe |
|
|
|
|
2 / 7739
|
|
53
|
(OMIM)
|
Mucosal lesions |
|
|
|
|
3 / 7739
|
|
54
|
(OMIM)
|
Albopapuloid lesions may occur |
|
|
|
|
4 / 7739
|
|
55
|
(OMIM)
|
Congenital absence of skin in areas |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Sublamina densa level of tissue separation beneath basal membrane |
|
|
|
|
5 / 7739
|
|
57
|
(OMIM)
|
Decreased number or absence of anchoring fibrils at dermal-epidermal junction |
|
|
|
|
2 / 7739
|
|
58
|
(OMIM)
|
Hypotrophic anchoring fibrils |
|
|
|
|
5 / 7739
|
|
59
|
(OMIM)
|
Decreased staining for collagen VII |
|
|
|
|
3 / 7739
|
|
60
|
(MedDRA:10068058)
|
Nail atrophy |
|
|
|
|
4 / 7739
|
|
61
|
(OMIM)
|
Loss of nails |
|
|
|
|
3 / 7739
|
|
62
|
(OMIM)
|
Anemia due to poor nutrition |
|
|
|
|
2 / 7739
|
|
63
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
64
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
65
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
66
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
67
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
68
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
69
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
70
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
71
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
72
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
73
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
74
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
75
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
76
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|