Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
3
 (HPO:0003700) Generalized amyotrophy 39 / 7739
4
 (HPO:0100295) Muscle fiber atrophy 22 / 7739
5
 (HPO:0000158) Macroglossia Occasional [Orphanet] 119 / 7739
6
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
7
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
8
 (HPO:0010702) Increased antibody level in blood Frequent [Orphanet] 29 / 7739
9
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
10
 (HPO:0011675) Arrhythmia Occasional [Orphanet] rare [HPO:skoehler] 226 / 7739
11
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
12
 (HPO:0002829) Arthralgia 79 / 7739
13
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
14
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
15
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
16
 (HPO:0001500) Broad finger Frequent [Orphanet] 9 / 7739
17
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
18
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
19
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
20
 (HPO:0007256) Abnormal pyramidal signs Occasional [Orphanet] 116 / 7739
21
 (HPO:0100760) Clubbing of toes Frequent [Orphanet] 24 / 7739
22
 (HPO:0100774) Hyperostosis Very frequent [Orphanet] 17 / 7739
23
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
24
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
25
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
26
 (HPO:0001640) Cardiomegaly Occasional [Orphanet] 81 / 7739
27
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
28
 (HPO:0100807) Long fingers 23 / 7739
29
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
30
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
31
 (HPO:0000448) Prominent nose 56 / 7739
32
 (HPO:0001371) Flexion contracture 220 / 7739
33
 (HPO:0001935) Microcytic anemia Occasional [Orphanet] 32 / 7739
34
 (HPO:0000509) Conjunctivitis 47 / 7739
35
 (HPO:0000938) Osteopenia 138 / 7739
36
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
37
 (HPO:0001090) Large eyes 20 / 7739
38
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
39
 (HPO:0001256) Intellectual disability, mild 141 / 7739
40
 (HPO:0001508) Failure to thrive 454 / 7739
41
 (HPO:0001510) Growth delay 295 / 7739
42
 (HPO:0002135) Basal ganglia calcification 37 / 7739
43
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
44
 (HPO:0002653) Bone pain 75 / 7739
45
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
46
 (HPO:0002987) Elbow flexion contracture 64 / 7739
47
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
48
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
49
 (HPO:0005830) Flexion contracture of toe 9 / 7739
50
 (HPO:0008887) Adipose tissue loss 4 / 7739
51
 (HPO:0012490) Panniculitis 7 / 7739
52
 (HPO:0100534) Episcleritis 9 / 7739
53
 (HPO:0100759) Clubbing of fingers 40 / 7739
54
 (OMIM) Loss of facial subcutaneous fat 4 / 7739
55
 (OMIM) Periorbital swelling due to violaceous plaques on the eyelids 4 / 7739
56
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
57
 (OMIM) Prominent abdomen 7 / 7739
58
 (OMIM) Narrowing of the joint spaces 4 / 7739
59
 (OMIM) Finger contractures, severe 4 / 7739
60
 (OMIM) Hand contractures, severe 4 / 7739
61
 (MedDRA:10061156) Finger deformity 5 / 7739
62
 (OMIM) Finger swelling 5 / 7739
63
 (OMIM) Toe contractures, severe 4 / 7739
64
 (OMIM) Foot contractures, severe 4 / 7739
65
 (OMIM) Erythematous nodular skin lesions 4 / 7739
66
 (OMIM) Annular erythematous edematous plaques 4 / 7739
67
 (OMIM) Lesions become purpuric 4 / 7739
68
 (OMIM) Residual hyperpigmentation 4 / 7739
69
 (OMIM) Lesions predominantly on face and limbs 4 / 7739
70
 (OMIM) Dry, stiff skin 4 / 7739
71
 (OMIM) Frostbitten hands 4 / 7739
72
 (OMIM) Mononuclear cell infiltrates 4 / 7739
73
 (OMIM) Atypical mononuclear cells with many mitoses 4 / 7739
74
 (MedDRA:10053857) Partial lipodystrophy 8 / 7739
75
 (OMIM) Lipodystrophy, generalized, panniculitis-induced (in some) 4 / 7739
76
 (OMIM) Marked loss of subcutaneous fat in the limbs, face, and sometimes chest 4 / 7739
77
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
78
 (OMIM) Fever, intermittent, recurrent (in some) 4 / 7739
79
 (OMIM) Antinuclear autoantibodies (in some) 4 / 7739
80
 (OMIM) Increased gamma-interferon 4 / 7739
81
 (OMIM) Increased IgG 4 / 7739
82
 (OMIM) Increased IgA 4 / 7739
83
 (OMIM) Increased IL-6 4 / 7739
84
 (OMIM) Increased IL-8 4 / 7739
85
 (OMIM) Abnormal liver enzymes, intermittent 5 / 7739
86
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
87
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
88
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
89
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
90
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
91
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
92
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
93
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
94
 (HPO:0000400) Macrotia 108 / 7739
95
 (HPO:0100490) Camptodactyly of finger 212 / 7739