|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
5
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
7
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
8
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
12
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
16
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
17
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
18
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
19
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
21
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
22
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
23
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
24
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
25
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
26
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
27
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
|
|
28 / 7739
|
|
28
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
29
|
(HPO:0002599)
|
Head titubation |
|
|
|
|
7 / 7739
|
|
30
|
(HPO:0004881)
|
Episodic hypoventilation |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0004885)
|
Episodic respiratory distress |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0008757)
|
Unilateral vocal cord paralysis |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
34
|
(OMIM)
|
Vomiting, episodic |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Dysphagia, episodic |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Choking, episodic |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Cerebellar dysfunction, progressive |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Intermittent, transient episodes of worsening of ataxia |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Intermittent episodes associated with lethargy, vomiting |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
41
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
42
|
(OMIM)
|
Neuronal loss and gliosis in the dentate nucleus |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Neuronal loss and gliosis in the inferior olives |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
46
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
47
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
48
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|