|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000822)
|
Hypertension |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
4
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
|
5
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
7
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
8
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
9
|
(HPO:0040075)
|
Hypopituitarism |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|