|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
3
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
4
|
(HPO:0000741)
|
Apathy |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0001262)
|
Somnolence |
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
8
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
9
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
|
10
|
(HPO:0002754)
|
Osteomyelitis |
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0100710)
|
Impulsivity |
|
|
|
|
16 / 7739
|
|
13
|
(OMIM)
|
Ulceration of the toes |
|
|
|
|
1 / 7739
|
|
14
|
(MedDRA:10061627)
|
Amputation |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Memory impairment, progressive |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000727)
|
Frontal lobe dementia |
|
|
|
|
6 / 7739
|
|
17
|
(OMIM)
|
Decreased speech |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Frontal lobe atrophy |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Hypometabolism of the frontal lobe and thalamic regions |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Sensory neuropathy affecting all modalities primarily affecting the lower limbs with some mild upper limb involvement |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Lancinating pains |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Almost complete loss of myelinated fibers seen on sural nerve biopsy |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Loss of unmyelinated fibers |
|
|
|
|
1 / 7739
|
|
24
|
(MedDRA:10013486)
|
Distractibility |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
26
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
27
|
(MedDRA:10012221)
|
Deliria (incl confusion) |
|
|
|
|
2 / 7739
|
|
28
|
(MedDRA:10012219)
|
Deliria |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
30
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|