Symptom Information: Sort according to HPO 

1
 (HPO:0008887) Adipose tissue loss Very frequent [IBIS] 25721873 IBIS 4 / 7739
2
 (HPO:0003758) Reduced subcutaneous adipose tissue Very frequent [IBIS] 25721873 IBIS 27 / 7739
3
 (HPO:0000956) Acanthosis nigricans Frequent [IBIS] 25721873 IBIS 54 / 7739
4
 (HPO:0002155) Hypertriglyceridemia Frequent [IBIS] 20684003 IBIS 67 / 7739
5
 (HPO:0002240) Hepatomegaly Frequent [IBIS] 25721873 IBIS 467 / 7739
6
 (HPO:0003560) Muscular dystrophy Frequent [IBIS] 25721873 IBIS 88 / 7739
7
 (HPO:0010646) Cervical spine instability Frequent [IBIS] 25721873 IBIS 2 / 7739
8
 (HPO:0009059) Congenital generalized lipodystrophy Frequent [IBIS] 25721873 IBIS 2 / 7739
9
 (HPO:0003198) Myopathy Frequent [IBIS] 25721873 IBIS 151 / 7739
10
 (HPO:0001657) Prolonged QT interval Rare [IBIS] 20300641 IBIS 33 / 7739
11
 (HPO:0000842) Hyperinsulinemia 20684003 IBIS 39 / 7739
12
 (HPO:0000855) Insulin resistance 20684003 IBIS 32 / 7739
13
 (HPO:0000938) Osteopenia 20300641 IBIS 138 / 7739
14
 (HPO:0000939) Osteoporosis 20300641 IBIS 129 / 7739
15
 (HPO:0001371) Flexion contracture 20684003 IBIS 220 / 7739
16
 (HPO:0001397) Hepatic steatosis 20684003 IBIS 75 / 7739
17
 (HPO:0001544) Prominent umbilicus 20684003 IBIS 4 / 7739
18
 (HPO:0001662) Bradycardia 20300641 IBIS 41 / 7739
19
 (HPO:0002015) Dysphagia 20684003 IBIS 301 / 7739
20
 (HPO:0002019) Constipation 19726876 IBIS 194 / 7739
21
 (HPO:0002021) Pyloric stenosis 20684003 IBIS 51 / 7739
22
 (HPO:0002650) Scoliosis 19726876 IBIS 705 / 7739
23
 (HPO:0003236) Elevated serum creatine phosphokinase 20684003 IBIS 214 / 7739
24
 (HPO:0003306) Spinal rigidity 20300641 IBIS 30 / 7739
25
 (HPO:0003307) Hyperlordosis 20300641 IBIS 122 / 7739
26
 (HPO:0003326) Myalgia 19726876 IBIS 143 / 7739
27
 (HPO:0003546) Exercise intolerance 20300641 IBIS 62 / 7739
28
 (HPO:0003552) Muscle stiffness 25721873 IBIS 23 / 7739
29
 (HPO:0003701) Proximal muscle weakness 19726876 IBIS 105 / 7739
30
 (HPO:0003712) Skeletal muscle hypertrophy 19726876 IBIS 42 / 7739
31
 (HPO:0003719) Muscle mounding 20684003 IBIS 4 / 7739
32
 (HPO:0005110) Atrial fibrillation 19726876 IBIS 71 / 7739
33
 (HPO:0011675) Arrhythmia 19726876 IBIS 226 / 7739
34
 (HPO:0001649) Tachycardia 20684003 IBIS 53 / 7739
35
 (OMIM) Protruding abdomen 20684003 IBIS 2 / 7739
36
 (OMIM) Atlanto-axial instability 20684003 IBIS 1 / 7739
37
 (OMIM) Percussion-induced muscle mounding (muscle rippling) 20300641 IBIS 1 / 7739
38
 (OMIM) Prominent muscular appearance 20684003 IBIS 1 / 7739
39
 (OMIM) Decreased caveolae in muscle tissue 20300641 IBIS 1 / 7739
40
 (OMIM) Loss of subcutaneous fat, generalized 25721873 IBIS 2 / 7739
41
 (OMIM) Acromegaloid features 20684003 IBIS 1 / 7739
42
 (HPO:0009125) Lipodystrophy 25721873 IBIS 54 / 7739
43
 (HPO:0000821) Hypothyroidism 25721873 IBIS 141 / 7739
44
 (HPO:0001015) Prominent superficial veins 20684003 IBIS 7 / 7739
45
 (HPO:0001762) Talipes equinovarus 25721873 IBIS 309 / 7739
46
 (HPO:0001258) Spastic paraplegia 25721873 IBIS 97 / 7739
47
 (HPO:0002194) Delayed gross motor development 25721873 IBIS 37 / 7739
48
 (HPO:0001249) Intellectual disability 25721873 IBIS 1089 / 7739
49
 (HPO:0003077) Hyperlipidemia 25721873 IBIS 37 / 7739
50
 (HPO:0008897) Postnatal growth retardation 25721873 IBIS 113 / 7739
51
 (HPO:0000336) Prominent supraorbital ridges 25721873 IBIS 45 / 7739
52
 (HPO:0000527) Long eyelashes 25721873 IBIS 46 / 7739
53
 (HPO:0000535) Sparse and thin eyebrow 25721873 IBIS 76 / 7739
54
 (HPO:0000307) Pointed chin 25721873 IBIS 45 / 7739
55
 (HPO:0000177) Abnormality of upper lip 25721873 IBIS 3 / 7739
56
 (HPO:0000411) Protruding ear 25721873 IBIS 140 / 7739
57
 (HPO:0004349) Reduced bone mineral density 25721873 IBIS 165 / 7739
58
 (HPO:0003467) Atlantoaxial instability 20684003 IBIS 6 / 7739
59
 (HPO:0004308) Ventricular arrhythmia 20684003 IBIS 46 / 7739
60
 (HPO:0001433) Hepatosplenomegaly 19726876 IBIS 78 / 7739
61
 (HPO:0001324) Muscle weakness 19726876 IBIS 859 / 7739
62
 (HPO:0002013) Vomiting 20684003 IBIS 191 / 7739
63
 (HPO:0001387) Joint stiffness 20684003 IBIS 322 / 7739
64
 (HPO:0001538) Protuberant abdomen 20684003 IBIS 36 / 7739
65
 (HPO:0004756) Ventricular tachycardia 20684003 IBIS 55 / 7739
66
 (HPO:0001531) Failure to thrive in infancy 25721873 IBIS 26 / 7739