1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
2
|
(HPO:0000738)
|
Hallucinations |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
3
|
(HPO:0000771)
|
Gynecomastia |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
4
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
5
|
(HPO:0000873)
|
Diabetes insipidus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
6
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
8
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
9
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
10
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
12
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
14
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
15
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
16
|
(HPO:0001251)
|
Ataxia |
rare [HPO:skoehler]
|
|
|
|
413 / 7739
|
17
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
18
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
19
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
20
|
(HPO:0006824)
|
Cranial nerve paralysis |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
21
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
22
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
23
|
(HPO:0004326)
|
Cachexia |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
24
|
(HPO:0000642)
|
Red-green dyschromatopsia |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
25
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
26
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
27
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
28
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
29
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
30
|
(HPO:0002011)
|
Morphological abnormality of the central nervous system |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
31
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
32
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
33
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
35
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
36
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
37
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
38
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
39
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
40
|
(HPO:0001605)
|
Vocal cord paralysis |
|
|
|
|
13 / 7739
|
41
|
(HPO:0001621)
|
Weak voice |
|
|
|
|
5 / 7739
|
42
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
43
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
44
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
45
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
46
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
47
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
48
|
(HPO:0002877)
|
Nocturnal hypoventilation |
|
|
|
|
9 / 7739
|
49
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
50
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
51
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
52
|
(HPO:0007097)
|
Cranial nerve motor loss |
|
|
|
|
1 / 7739
|
53
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
|
|
12 / 7739
|
54
|
(HPO:0009130)
|
Hand muscle atrophy |
|
|
|
|
11 / 7739
|
55
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
56
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
57
|
(HPO:0011448)
|
Ankle clonus |
|
|
|
|
31 / 7739
|
58
|
(HPO:0011449)
|
Knee clonus |
|
|
|
|
10 / 7739
|
59
|
(HPO:0012473)
|
Tongue atrophy |
|
|
|
|
8 / 7739
|