|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
6
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
10
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
11
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
12
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
13
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0001519)
|
Disproportionate tall stature |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0003040)
|
Arthropathy |
|
|
|
|
19 / 7739
|
|
19
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
20
|
(OMIM)
|
Normal height |
|
|
|
|
8 / 7739
|
|
21
|
(OMIM)
|
Occasional conductive hearing loss |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Occasional cataracts |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Membranous (type I) vitreous phenotype |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Mild spondyloepiphyseal dysplasia |
|
|
|
|
3 / 7739
|
|
25
|
(OMIM)
|
Platyspondyly with anterior wedging |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Flat, irregular femoral epiphyses |
|
|
|
|
1 / 7739
|