|
1
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
2
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
3
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
4
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
6
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0009700)
|
Finger symphalangism |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
8
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
9
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
11
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
13
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
14
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
15
|
(HPO:0000381)
|
Stapes ankylosis |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
17
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
18
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
19
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0000920)
|
Enlargement of the costochondral junction |
|
|
|
|
11 / 7739
|
|
21
|
(HPO:0001032)
|
Absent distal interphalangeal creases |
|
|
|
|
9 / 7739
|
|
22
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
23
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
24
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
|
25
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
26
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
27
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
28
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
|
30
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
31
|
(HPO:0005104)
|
Hypoplastic nasal septum |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
33
|
(HPO:0005807)
|
Absent distal phalanges |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0006152)
|
Proximal symphalangism of hands |
|
|
|
|
9 / 7739
|
|
35
|
(HPO:0006187)
|
Fusion of midphalangeal joints |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0006385)
|
Short lower limbs |
|
|
|
|
8 / 7739
|
|
37
|
(HPO:0008368)
|
Tarsal synostosis |
|
|
|
|
21 / 7739
|
|
38
|
(HPO:0008460)
|
Hypoplastic spinal processes |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0008607)
|
Progressive conductive hearing impairment |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
41
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
|
42
|
(HPO:0009816)
|
Lower limb undergrowth |
|
|
|
|
6 / 7739
|
|
43
|
(HPO:0009843)
|
Aplasia/Hypoplasia of the middle phalanges of the hand |
|
|
|
|
13 / 7739
|
|
44
|
(HPO:0010109)
|
Short hallux |
|
|
|
|
27 / 7739
|
|
45
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
46
|
(HPO:0010624)
|
Aplastic/hypoplastic toenail |
|
|
|
|
3 / 7739
|
|
47
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|