1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
2
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
3
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
4
|
(HPO:0000540)
|
Hypermetropia |
Very frequent [Orphanet]
|
|
|
|
99 / 7739
|
5
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
6
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
7
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
9
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
10
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
11
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
12
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
13
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
14
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
15
|
(HPO:0007588)
|
Reticular hyperpigmentation |
|
|
|
|
9 / 7739
|
16
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
17
|
(HPO:0001597)
|
Abnormality of the nail |
|
|
|
|
115 / 7739
|
18
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
19
|
(HPO:0007502)
|
Follicular hyperkeratosis |
|
|
|
|
12 / 7739
|
20
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
21
|
(HPO:0011065)
|
Conical incisor |
|
|
|
|
5 / 7739
|
22
|
(OMIM)
|
Conical crown form |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Normal sweating |
|
|
|
|
13 / 7739
|
24
|
(OMIM)
|
Normal nails |
|
|
|
|
15 / 7739
|
25
|
(OMIM)
|
Sparse, thin, brittle scalp hair |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Pili annulati |
|
|
|
|
1 / 7739
|
27
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
29
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
31
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|