1
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
2
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
3
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
4
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
5
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
6
|
(HPO:0004528)
|
Generalized hypotrichosis |
|
|
|
|
18 / 7739
|
7
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
8
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
9
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
10
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
11
|
(HPO:0002215)
|
Sparse axillary hair |
|
|
|
|
21 / 7739
|
12
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
13
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
14
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
15
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
16
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
17
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
18
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
19
|
(HPO:0002552)
|
Trichodysplasia |
|
|
|
|
4 / 7739
|
20
|
(HPO:0005338)
|
Sparse lateral eyebrow |
|
|
|
|
21 / 7739
|
21
|
(HPO:0006313)
|
Widely spaced primary teeth |
|
|
|
|
1 / 7739
|
22
|
(HPO:0006347)
|
Microdontia of primary teeth |
|
|
|
|
4 / 7739
|
23
|
(HPO:0006349)
|
Agenesis of permanent teeth |
|
|
|
|
13 / 7739
|
24
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
25
|
(OMIM)
|
Small, pointed deciduous teeth |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Structural hair changes on scanning EM |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Scaling skin |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Sparse distal two-thirds of eyebrows |
|
|
|
|
1 / 7739
|
29
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
31
|
(HPO:0040189)
|
Scaling skin |
|
|
|
|
6 / 7739
|