1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
3
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
4
|
(HPO:0002615)
|
Hypotension |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
5
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
6
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
8
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
9
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
10
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
11
|
(HPO:0000802)
|
Impotence |
|
|
|
|
20 / 7739
|
12
|
(HPO:0008652)
|
Autonomic erectile dysfunction |
|
|
|
|
3 / 7739
|
13
|
(HPO:0100639)
|
Erectile abnormalities |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
14
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
15
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
16
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
17
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
18
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
19
|
(HPO:0000079)
|
Abnormality of the urinary system |
|
|
|
|
88 / 7739
|
20
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
21
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
22
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
23
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
24
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
25
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
26
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
27
|
(HPO:0004926)
|
Orthostatic hypotension due to autonomic dysfunction |
|
|
|
|
2 / 7739
|
28
|
(HPO:0005341)
|
Autonomic bladder dysfunction |
|
|
|
|
1 / 7739
|
29
|
(HPO:0006994)
|
Diffuse leukoencephalopathy |
|
|
|
|
1 / 7739
|
30
|
(HPO:0007024)
|
Pseudobulbar paralysis |
|
|
|
|
7 / 7739
|
31
|
(HPO:0007262)
|
Symmetric peripheral demyelination |
|
|
|
|
1 / 7739
|
32
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
|
|
14 / 7739
|
33
|
(HPO:0007480)
|
Decreased sweating due to autonomic dysfunction |
|
|
|
|
1 / 7739
|
34
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
35
|
(OMIM)
|
Abnormal bowel regulation due to autonomic dysfunction |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Abnormal bladder regulation due to autonomic dysfunction |
|
|
|
|
1 / 7739
|
37
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
38
|
(OMIM)
|
Loss of fine motor skills |
|
|
|
|
1 / 7739
|
39
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
40
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
41
|
(OMIM)
|
Leukodystrophy, demyelinating |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Demyelination, symmetric |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Brain imaging shows decreased white matter density |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Cavitating white matter degeneration |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Hypotrophic brainstem |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
White matter lesions in the brainstem may occur |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Neuropathologic findings include leukoencephalopathy, predominantly in the upper corticospinal tract and cerebellar peduncles (initially) |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Leukoencephalopathy in the frontal and parietal lobes (later) |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Atrophic spinal cord |
|
|
|
|
2 / 7739
|
50
|
(OMIM)
|
Oligodendrocytes with foamy cytoplasm |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Decreased numbers of astrocytes |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Astrocytes show reactive changes |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Lack of inflammatory infiltrate |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Preservation of U fibers |
|
|
|
|
2 / 7739
|
55
|
(OMIM)
|
Sparing of optic tracts |
|
|
|
|
1 / 7739
|
56
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
57
|
(OMIM)
|
Patient cells have increased levels of LMNB1 mRNA and protein |
|
|
|
|
1 / 7739
|
58
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
59
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
60
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
61
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
62
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
63
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
64
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
65
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|