1
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
2
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
3
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
4
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
5
|
(HPO:0006323)
|
Premature loss of primary teeth |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
6
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
7
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
8
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
9
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
10
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
12
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
13
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
14
|
(HPO:0000607)
|
Periorbital wrinkles |
|
|
|
|
4 / 7739
|
15
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
16
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
17
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
18
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
19
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
20
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
21
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
22
|
(HPO:0001106)
|
Periorbital hyperpigmentation |
|
|
|
|
3 / 7739
|
23
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
24
|
(HPO:0002046)
|
Heat intolerance |
|
|
|
|
13 / 7739
|
25
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
26
|
(HPO:0007607)
|
Hypohidrotic ectodermal dysplasia |
|
|
|
|
5 / 7739
|
27
|
(HPO:0010803)
|
Everted upper lip vermilion |
|
|
|
|
4 / 7739
|
28
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|