|
1
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
2
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
4
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
5
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
7
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
8
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
11
|
(HPO:0000615)
|
Abnormality of the pupil |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
12
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
13
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
14
|
(HPO:0000171)
|
Microglossia |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
16
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
17
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
18
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
19
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
22
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
23
|
(HPO:0000588)
|
Optic nerve coloboma |
|
|
|
|
27 / 7739
|
|
24
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
25
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
26
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
27
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
28
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
29
|
(HPO:0003274)
|
Hypoplastic acetabulae |
|
|
|
|
7 / 7739
|
|
30
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
31
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
32
|
(OMIM)
|
Ectopic pupil |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Small first ribs |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Absent twelfth rib |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
36
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
37
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|