|
1
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0000465)
|
Webbed neck |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
7
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0002162)
|
Low posterior hairline |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
11
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0000538)
|
Pseudopapilledema |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0002949)
|
Fused cervical vertebrae |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
15
|
(OMIM)
|
Sensorineural, conductive, or mixed hearing loss |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
|
17
|
(MedDRA:10013799)
|
Duane's syndrome |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Klippel-Feil anomaly |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Short, webbed neck |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|