Symptom Information: Sort according to HPO 

1
(HPO:0000158) Macroglossia 119 / 7739
2
(HPO:0000509) Conjunctivitis 47 / 7739
3
(HPO:0000938) Osteopenia 138 / 7739
4
(HPO:0100807) Long fingers 23 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0001256) Intellectual disability, mild 141 / 7739
7
(HPO:0001324) Muscle weakness 859 / 7739
8
(HPO:0001508) Failure to thrive 454 / 7739
9
(HPO:0001510) Growth delay 295 / 7739
10
(HPO:0001635) Congestive heart failure 232 / 7739
11
(HPO:0001744) Splenomegaly 337 / 7739
12
(HPO:0001935) Microcytic anemia 32 / 7739
13
(HPO:0002135) Basal ganglia calcification 37 / 7739
14
(HPO:0002155) Hypertriglyceridemia 67 / 7739
15
(HPO:0002240) Hepatomegaly 467 / 7739
16
(HPO:0002653) Bone pain 75 / 7739
17
(HPO:0001371) Flexion contracture 220 / 7739
18
(HPO:0002829) Arthralgia 79 / 7739
19
(HPO:0002987) Elbow flexion contracture 64 / 7739
20
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
21
(HPO:0003700) Generalized amyotrophy 39 / 7739
22
(HPO:0100295) Muscle fiber atrophy 22 / 7739
23
(HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
24
(HPO:0004322) Short stature 1232 / 7739
25
(HPO:0010702) Increased antibody level in blood 29 / 7739
26
(HPO:0011675) Arrhythmia 226 / 7739
27
(HPO:0012490) Panniculitis 7 / 7739
28
(HPO:0100534) Episcleritis 9 / 7739
29
(HPO:0100759) Clubbing of fingers 40 / 7739
30
(OMIM) Loss of facial subcutaneous fat 4 / 7739
31
(OMIM) Periorbital swelling due to violaceous plaques on the eyelids 4 / 7739
32
(HPO:0012471) Thick vermilion border 115 / 7739
33
(OMIM) Prominent abdomen 7 / 7739
34
(OMIM) Narrowing of the joint spaces 4 / 7739
35
(OMIM) Finger contractures, severe 4 / 7739
36
(OMIM) Hand contractures, severe 4 / 7739
37
(MedDRA:10061156) Finger deformity 5 / 7739
38
(OMIM) Finger swelling 5 / 7739
39
(OMIM) Toe contractures, severe 4 / 7739
40
(OMIM) Foot contractures, severe 4 / 7739
41
(OMIM) Erythematous nodular skin lesions 4 / 7739
42
(OMIM) Annular erythematous edematous plaques 4 / 7739
43
(OMIM) Lesions become purpuric 4 / 7739
44
(OMIM) Residual hyperpigmentation 4 / 7739
45
(OMIM) Lesions predominantly on face and limbs 4 / 7739
46
(OMIM) Dry, stiff skin 4 / 7739
47
(OMIM) Frostbitten hands 4 / 7739
48
(OMIM) Mononuclear cell infiltrates 4 / 7739
49
(OMIM) Atypical mononuclear cells with many mitoses 4 / 7739
50
(MedDRA:10053857) Partial lipodystrophy 8 / 7739
51
(OMIM) Lipodystrophy, generalized, panniculitis-induced (in some) 4 / 7739
52
(OMIM) Marked loss of subcutaneous fat in the limbs, face, and sometimes chest 4 / 7739
53
(HPO:0001327) Photomyoclonic seizures 125 / 7739
54
(OMIM) Fever, intermittent, recurrent (in some) 4 / 7739
55
(OMIM) Antinuclear autoantibodies (in some) 4 / 7739
56
(OMIM) Increased gamma-interferon 4 / 7739
57
(OMIM) Increased IgG 4 / 7739
58
(OMIM) Increased IgA 4 / 7739
59
(OMIM) Increased IL-6 4 / 7739
60
(OMIM) Increased IL-8 4 / 7739
61
(HPO:0011227) Elevated C-reactive protein level 55 / 7739
62
(OMIM) Abnormal liver enzymes, intermittent 5 / 7739