|
1
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
|
9
|
(HPO:0007650)
|
Progressive ophthalmoplegia |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0007817)
|
Horizontal supranuclear gaze palsy |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Gaze palsy, horizontal |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
13
|
(OMIM)
|
Scoliosis, thoracolumbar, severe, progressive |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|