1
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
2
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
3
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
4
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
5
|
(HPO:0001010)
|
Hypopigmentation of the skin |
|
|
|
|
46 / 7739
|
6
|
(HPO:0001857)
|
Short distal phalanx of toe |
|
|
|
|
6 / 7739
|
7
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
8
|
(HPO:0006189)
|
Prominent interdigital folds |
|
|
|
|
1 / 7739
|
9
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
10
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
11
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
12
|
(HPO:0010105)
|
Short first metatarsal |
|
|
|
|
4 / 7739
|
13
|
(HPO:0010719)
|
Abnormality of hair texture |
|
|
|
|
24 / 7739
|
14
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
15
|
(OMIM)
|
Thick, coarse lips |
|
|
|
|
1 / 7739
|
16
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
17
|
(OMIM)
|
Single thumb creases |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Trichodystrophy |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Straw-like fragile hair |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Irregular diameter of hair shaft with hypopigmentation and tendency to fracture (light microscopy) |
|
|
|
|
1 / 7739
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
22
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|