|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0009738)
|
Abnormality of the antihelix |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
9
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
12
|
(HPO:0005108)
|
Abnormality of the intervertebral disk |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
14
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
16
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
17
|
(HPO:0000541)
|
Retinal detachment |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
18
|
(HPO:0000974)
|
Hyperextensible skin |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
|
19
|
(HPO:0011262)
|
Crimped helix |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
22
|
(HPO:0009796)
|
Branchial cyst |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
23
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
24
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
25
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
26
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
27
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
28
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
29
|
(HPO:0000517)
|
Abnormality of the lens |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
32
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
33
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
34
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
35
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
|
36
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
|
37
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
38
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
39
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
40
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
41
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
|
42
|
(HPO:0004325)
|
Decreased body weight |
rare [HPO:skoehler]
|
|
|
|
492 / 7739
|
|
43
|
(HPO:0010511)
|
Long toe |
|
|
|
|
9 / 7739
|
|
44
|
(HPO:0012741)
|
Unilateral cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|