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1
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(HPO:0000407)
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Sensorineural hearing impairment |
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|
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524 / 7739
|
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2
|
(HPO:0008527)
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Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
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Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
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4
|
(HPO:0000580)
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Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
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5
|
(HPO:0000544)
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External ophthalmoplegia |
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|
|
|
40 / 7739
|
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6
|
(HPO:0000597)
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Ophthalmoparesis |
|
|
|
|
71 / 7739
|
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7
|
(HPO:0000602)
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Ophthalmoplegia |
|
|
|
|
56 / 7739
|
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8
|
(HPO:0000639)
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Nystagmus |
|
|
|
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555 / 7739
|
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9
|
(HPO:0000648)
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Optic atrophy |
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|
|
|
238 / 7739
|
|
10
|
(HPO:0000712)
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Emotional lability |
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|
|
|
44 / 7739
|
|
11
|
(HPO:0002200)
|
Pseudobulbar signs |
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|
|
|
15 / 7739
|
|
12
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
14
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
|
15
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
19
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
21
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
22
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
25
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
26
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
27
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
28
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
29
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
30
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
31
|
(HPO:0001404)
|
Hepatocellular necrosis |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
33
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
34
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
35
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
36
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
37
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
|
|
28 / 7739
|
|
38
|
(HPO:0002793)
|
Abnormal pattern of respiration |
|
|
|
|
26 / 7739
|
|
39
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
40
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
41
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
42
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
43
|
(OMIM)
|
Brainstem abnormalities |
|
|
|
|
3 / 7739
|
|
44
|
(OMIM)
|
Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation |
|
|
|
|
2 / 7739
|