|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0002002)
|
Deep philtrum |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
5
|
(HPO:0009896)
|
Abnormality of the antitragus |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
7
|
(HPO:0009486)
|
Radial deviation of the hand |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
12
|
(HPO:0009933)
|
Narrow naris |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
|
|
22 / 7739
|
|
14
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
15
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
16
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
18
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
19
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
20
|
(HPO:0000890)
|
Long clavicles |
|
|
|
|
13 / 7739
|
|
21
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
|
22
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
23
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
24
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
|
25
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
|
26
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
27
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
28
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
30
|
(HPO:0004461)
|
Congenital earlobe sinuses |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0004557)
|
Anterior vertebral fusion |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
|
33
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
34
|
(HPO:0006420)
|
Asymmetric radial dysplasia |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
36
|
(HPO:0010038)
|
Short 2nd metacarpal |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
38
|
(OMIM)
|
Absent stapedial reflex |
|
|
|
|
1 / 7739
|
|
39
|
(MedDRA:10040739)
|
Sinus arrhythmia |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Club hand |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Absent second finger |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
43
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
44
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
45
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
46
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
47
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
48
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
49
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|