1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
2
|
(HPO:0001944)
|
Dehydration |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
3
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
4
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
5
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
6
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
7
|
(HPO:0001806)
|
Onycholysis |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
8
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
9
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
10
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
11
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
12
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
13
|
(HPO:0003341)
|
Junctional split |
|
|
|
|
2 / 7739
|
14
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
15
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
16
|
(HPO:0007383)
|
Congenital localized absence of skin |
|
|
|
|
2 / 7739
|
17
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
18
|
(OMIM)
|
Oral mucosal lesions |
|
|
|
|
2 / 7739
|
19
|
(OMIM)
|
Syndactyly does not occur |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Severe bullous blistering lesions |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Perinasal or perioral nonhealing crusting of the skin |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Atrophic scarring |
|
|
|
|
9 / 7739
|
23
|
(OMIM)
|
Exuberant granulation tissue |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Skin cleavage in the lamina lucida |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Absence of immunostaining to laminin 5 subunits |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Hemidesmosomal abnormalities |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Loss of nails |
|
|
|
|
3 / 7739
|
28
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
29
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
30
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
32
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|