|
1
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0000541)
|
Retinal detachment |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
7
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
9
|
(HPO:0001519)
|
Disproportionate tall stature |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
11
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
12
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
14
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
15
|
(HPO:0004327)
|
Abnormality of the vitreous humor |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
16
|
(HPO:0100734)
|
Abnormality of vertebral epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
18
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
19
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
20
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
21
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|