|
1
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0008388)
|
Abnormality of the toenails |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
6
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
7
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
8
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
9
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
14
|
(HPO:0005793)
|
Shortening of all distal phalanges of the toes |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0006118)
|
Shortening of all distal phalanges of the fingers |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
|
18
|
(HPO:0009943)
|
Complete duplication of thumb phalanx |
|
|
|
|
8 / 7739
|
|
19
|
(OMIM)
|
Bulbous tip |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Absent/hypoplastic distal phalanges of hands |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Absent/hypoplastic distal phalanges of feet |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
23
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
24
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|