|
1
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
5
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
|
|
|
|
15 / 7739
|
|
15
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
|
16
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
17
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
20
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
21
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0009830)
|
Peripheral neuropathy |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
|
23
|
(HPO:0000617)
|
Abnormality of ocular smooth pursuit |
|
|
|
|
6 / 7739
|
|
24
|
(OMIM)
|
Vertical gaze limitation |
|
|
|
|
2 / 7739
|
|
25
|
(MedDRA:10069632)
|
Bladder dysfunction |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
27
|
(OMIM)
|
Motor regression |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
29
|
(HPO:0002384)
|
Focal seizures with impairment of consciousness or awareness |
|
|
|
|
17 / 7739
|
|
30
|
(OMIM)
|
Developmental delay, mild |
|
|
|
|
8 / 7739
|
|
31
|
(OMIM)
|
Cognitive regression, mild |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Decreased vibratory and positional sense (some patients) |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
34
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
35
|
(HPO:0000823)
|
Delayed puberty |
hallmark [HPO:skoehler]
|
|
|
|
65 / 7739
|
|
36
|
(HPO:0001263)
|
Global developmental delay |
typical [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
37
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
38
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
39
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
40
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|