Symptom Information: Sort according to HPO 

1
 (HPO:0003473) Fatigable weakness Occasional [Orphanet] 39 / 7739
2
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 71 / 7739
3
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
4
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
5
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 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:0000972) Palmoplantar hyperkeratosis 41 / 7739
10
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
11
 (HPO:0001056) Milia rare [HPO:skoehler] 24 / 7739
12
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
13
 (HPO:0002164) Nail dysplasia rare [HPO:skoehler] 82 / 7739
14
 (HPO:0002793) Abnormal pattern of respiration Frequent [Orphanet] 26 / 7739
15
 (HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
16
 (OMIM) Oral blistering 3 / 7739
17
 (OMIM) Blistering, generalized, recurrent (occurs after mild physical trauma) 1 / 7739
18
 (OMIM) Lack of scarring 1 / 7739
19
 (OMIM) Cleavage within basal keratinocytes 4 / 7739
20
 (OMIM) No clumping of keratin filaments in basal epidermal cells 1 / 7739
21
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
22
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
23
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
24
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739