|
1
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0000855)
|
Insulin resistance |
|
|
|
|
32 / 7739
|
|
7
|
(HPO:0001278)
|
Orthostatic hypotension |
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
10
|
(HPO:0001733)
|
Pancreatitis |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
13
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
14
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
|
|
53 / 7739
|
|
16
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
17
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
18
|
(HPO:0007409)
|
Absence of subcutaneous fat over entire body except buttocks, hips, and thighs |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0007485)
|
Absence of subcutaneous fat |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0009125)
|
Lipodystrophy |
|
|
|
|
54 / 7739
|
|
21
|
(OMIM)
|
Lack of facial fat |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
'Hatchet' face |
|
|
|
|
1 / 7739
|
|
23
|
(MedDRA:10063534)
|
Ocular dysmetria |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Taut skin |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Spastic-ataxic gait |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Increased vitamin E (alpha-tocopherol) levels |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
28
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|