|
1
|
(HPO:0003473)
|
Fatigable weakness |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
10
|
(HPO:0000491)
|
Keratitis |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
12
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
14
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
17
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0004552)
|
Scarring alopecia of scalp |
|
|
|
|
3 / 7739
|
|
21
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
22
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
23
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
24
|
(HPO:0009025)
|
Increased connective tissue |
|
|
|
|
11 / 7739
|
|
25
|
(HPO:0011859)
|
Punctate keratitis |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0012227)
|
Urethral stricture |
|
|
|
|
5 / 7739
|
|
27
|
(OMIM)
|
Slow weight gain |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Blistering of mucous membranes |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000068)
|
Urethral atresia |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0008661)
|
Urethral stenosis |
|
|
|
|
9 / 7739
|
|
31
|
(OMIM)
|
Blistering, generalized, neonatal onset |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Minimal or absent scarring |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Negative staining with HD121 |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Hypoplastic hemidesmosomes |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Muscular dystrophy with variable age of onset (infancy to young adult) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Degenerative changes with increased connective tissue |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|