|
1
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
2
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
4
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0002168)
|
Scanning speech |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0007263)
|
Spinocerebellar atrophy |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0007712)
|
Choroidal dystrophy |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hypothalamic dysfunction |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Delay in secondary sexual characteristics |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decreased plasma gonadotrophin |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0001257)
|
Spasticity |
rare [HPO:skoehler]
|
|
|
|
251 / 7739
|
|
21
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
22
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
23
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
25
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
26
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|