1
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
2
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
4
|
(HPO:0000498)
|
Blepharitis |
|
|
|
|
27 / 7739
|
5
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
6
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
7
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
8
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
9
|
(HPO:0001597)
|
Abnormality of the nail |
|
|
|
|
115 / 7739
|
10
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
11
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
12
|
(HPO:0003777)
|
Pili torti |
|
|
|
|
24 / 7739
|
13
|
(HPO:0007431)
|
Congenital ichthyosiform erythroderma |
|
|
|
|
17 / 7739
|
14
|
(HPO:0007665)
|
Curly eyelashes |
|
|
|
|
6 / 7739
|
15
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
16
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
17
|
(HPO:0007840)
|
Long upper eyelashes |
|
|
|
|
1 / 7739
|
18
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
19
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
20
|
(OMIM)
|
Long, curly dark upper eyelashes |
|
|
|
|
1 / 7739
|
21
|
(MedDRA:10035060)
|
Pinguecula |
|
|
|
|
4 / 7739
|
22
|
(OMIM)
|
Conical primary teeth |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Notched teeth |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Pitted teeth |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Vernix-like skin covering (present at birth, shed during first month of life) |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Marked acanthosis |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Thickened stratum corneum |
|
|
|
|
3 / 7739
|
28
|
(OMIM)
|
Persistence of corneodesmosomes in stratum corneum |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Normal nails |
|
|
|
|
15 / 7739
|
30
|
(OMIM)
|
Fragile hair |
|
|
|
|
5 / 7739
|
31
|
(OMIM)
|
Dysplastic hair |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Pili bifurcati |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Central pili mono bifurcati |
|
|
|
|
1 / 7739
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|