|
1
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000524)
|
Conjunctival telangiectasia |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
4
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
|
11
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
12
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
13
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|