|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
3
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
7
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0001658)
|
Myocardial infarction |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
|
|
76 / 7739
|
|
10
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
11
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
|
|
|
|
18 / 7739
|
|
14
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
15
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
16
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
17
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
18
|
(HPO:0007021)
|
Pain insensitivity |
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0007328)
|
Impaired pain sensation |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
21
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
22
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
23
|
(HPO:0010829)
|
Impaired temperature sensation |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
25
|
(OMIM)
|
Facial diplegia due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Decreased corneal sensation due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Incomplete eyelid closure |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Exposure keratopathy |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Enlarged, yellow-orange tonsils |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Heart disease, premature |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0005181)
|
Premature coronary artery disease |
|
|
|
|
5 / 7739
|
|
32
|
(HPO:0002621)
|
Atherosclerosis |
|
|
|
|
33 / 7739
|
|
33
|
(OMIM)
|
Distal loss of facial hair |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Distal muscle atrophy due to peripheral neuropathy |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Syringomyelia-like syndrome |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Pain and temperature sensation loss |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Nerve biopsy showed demyelination, remyelination, and deposition of fat droplets in axons |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Decreased serum HDL cholesterol |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Decreased or absent apolipoprotein A-I |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Accumulation of cholesterol esters in various tissues |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Deficient efflux of intracellular cholesterol |
|
|
|
|
1 / 7739
|