Symptom Information: Sort according to HPO 

1
 (HPO:0100827) Lymphocytosis Frequent [Orphanet] 5 / 7739
2
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
3
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
4
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
5
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
6
 (HPO:0002907) Microscopic hematuria Frequent [Orphanet] 27 / 7739
7
 (HPO:0000831) Insulin-resistant diabetes mellitus Occasional [Orphanet] occasional [HPO] 22 / 7739
8
 (HPO:0000855) Insulin resistance Occasional [Orphanet] 32 / 7739
9
 (HPO:0000951) Abnormality of the skin Occasional [Orphanet] 147 / 7739
10
 (HPO:0011354) Generalized abnormality of skin Occasional [Orphanet] 7 / 7739
11
 (HPO:0001397) Hepatic steatosis Occasional [Orphanet] 75 / 7739
12
 (HPO:0000998) Hypertrichosis Occasional [Orphanet] 52 / 7739
13
 (HPO:0001007) Hirsutism Occasional [Orphanet] occasional [HPO] 91 / 7739
14
 (HPO:0002230) Generalized hirsutism Occasional [Orphanet] occasional [HPO] 32 / 7739
15
 (HPO:0004554) Generalized hypertrichosis Occasional [Orphanet] occasional [HPO] 30 / 7739
16
 (HPO:0002718) Recurrent bacterial infections Occasional [Orphanet] 75 / 7739
17
 (HPO:0002719) Recurrent infections Occasional [Orphanet] 107 / 7739
18
 (HPO:0002721) Immunodeficiency Occasional [Orphanet] 97 / 7739
19
 (HPO:0002829) Arthralgia Occasional [Orphanet] 79 / 7739
20
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] occasional [HPO] 141 / 7739
21
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
22
 (HPO:0002121) Absence seizures Frequent [Orphanet] 62 / 7739
23
 (HPO:0002133) Status epilepticus Frequent [Orphanet] 59 / 7739
24
 (HPO:0011097) Epileptic spasms Frequent [Orphanet] 45 / 7739
25
 (HPO:0011147) Typical absence seizures Frequent [Orphanet] 33 / 7739
26
 (HPO:0004431) Complement deficiency Frequent [Orphanet] 10 / 7739
27
 (HPO:0002960) Autoimmunity Frequent [Orphanet] 78 / 7739
28
 (HPO:0007552) Abnormal subcutaneous fat tissue distribution Very frequent [Orphanet] 12 / 7739
29
 (HPO:0009064) Generalized lipodystrophy Very frequent [Orphanet] 17 / 7739
30
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
31
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
32
 (HPO:0001249) Intellectual disability Frequent [Orphanet] 1089 / 7739
33
 (HPO:0001263) Global developmental delay Frequent [Orphanet] 853 / 7739
34
 (HPO:0001270) Motor delay Frequent [Orphanet] 322 / 7739
35
 (HPO:0001328) Specific learning disability Frequent [Orphanet] 114 / 7739
36
 (HPO:0007495) Prematurely aged appearance Frequent [Orphanet] 44 / 7739
37
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
38
 (HPO:0000100) Nephrotic syndrome 83 / 7739
39
 (HPO:0000138) Ovarian cyst 25 / 7739
40
 (HPO:0000147) Polycystic ovaries 18 / 7739
41
 (HPO:0008675) Enlarged polycystic ovaries 14 / 7739
42
 (HPO:0000793) Membranoproliferative glomerulonephritis 8 / 7739
43
 (HPO:0000819) Diabetes mellitus 131 / 7739
44
 (HPO:0003119) Abnormality of lipid metabolism 60 / 7739
45
 (HPO:0005339) Abnormality of complement system Frequent [Orphanet] 3 / 7739
46
 (HPO:0005421) Decreased serum complement C3 9 / 7739
47
 (HPO:0009002) Loss of truncal subcutaneous adipose tissue 3 / 7739
48
 (HPO:0009019) Progressive loss of facial adipose tissue 2 / 7739
49
 (HPO:0009056) Loss of subcutaneous adipose tissue from upper limbs 1 / 7739
50
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
51
 (HPO:0000292) Loss of facial adipose tissue 6 / 7739
52
 (OMIM) Sunken face 2 / 7739
53
 (OMIM) 'Progeroid' expression 2 / 7739
54
 (OMIM) Loss of subcutaneous adipose tissue from upper limbs and trunk 2 / 7739
55
 (OMIM) Association with autoimmune disease 1 / 7739