1
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
2
|
(HPO:0004327)
|
Abnormality of the vitreous humor |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
4
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
5
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
6
|
(HPO:0000488)
|
Retinopathy |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
7
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
8
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
9
|
(HPO:0000541)
|
Retinal detachment |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
10
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
11
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
12
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
14
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
15
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
16
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
17
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
18
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
19
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
20
|
(HPO:0003040)
|
Arthropathy |
|
|
|
|
19 / 7739
|
21
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
22
|
(OMIM)
|
Normal height |
|
|
|
|
8 / 7739
|
23
|
(OMIM)
|
Type 2 vitreous phenotype (irregularly thickened fiber bundles throughout vitreous cavity) |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Mild spondyloepiphyseal dysplasia |
|
|
|
|
3 / 7739
|
25
|
(OMIM)
|
Slender extremities |
|
|
|
|
1 / 7739
|
26
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
27
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
29
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|