|
1
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
4
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
5
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
6
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
8
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
10
|
(HPO:0008513)
|
Bilateral conductive hearing impairment |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0008591)
|
Congenital conductive hearing impairment |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
13
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
14
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
16
|
(OMIM)
|
Myopia, progressive, early onset |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Retinal thinning |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10020478)
|
Hyalosis asteroid |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Cataracts, crenated |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Snub nose |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Shortened vertebral bodies, mild |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Flattened epiphyses around knee joint |
|
|
|
|
1 / 7739
|
|
23
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
24
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
27
|
(HPO:0030329)
|
Retinal thinning |
|
|
|
|
3 / 7739
|