Symptom Information: Sort according to HPO 

1
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
2
 (HPO:0000100) Nephrotic syndrome Very frequent [Orphanet] 83 / 7739
3
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
4
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
5
 (HPO:0002843) Abnormality of T cells 7 / 7739
6
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
7
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
8
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
9
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
10
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
11
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
12
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
13
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 50% [HPO:probinson] 358 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
16
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
17
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
18
 (HPO:0000414) Bulbous nose 63 / 7739
19
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
20
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
21
 (HPO:0100820) Glomerulopathy Very frequent [Orphanet] 46 / 7739
22
 (HPO:0000083) Renal insufficiency 232 / 7739
23
 (HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
24
 (HPO:0000483) Astigmatism 67 / 7739
25
 (HPO:0000545) Myopia 286 / 7739
26
 (HPO:0000822) Hypertension 224 / 7739
27
 (HPO:0000926) Platyspondyly 150 / 7739
28
 (HPO:0000938) Osteopenia 138 / 7739
29
 (HPO:0001034) Hypermelanotic macule 22 / 7739
30
 (HPO:0001270) Motor delay 322 / 7739
31
 (HPO:0001620) High pitched voice 32 / 7739
32
 (HPO:0001875) Neutropenia 83 / 7739
33
 (HPO:0002208) Coarse hair 58 / 7739
34
 (HPO:0002213) Fine hair 77 / 7739
35
 (HPO:0002326) Transient ischemic attack 13 / 7739
36
 (HPO:0002515) Waddling gait 56 / 7739
37
 (HPO:0002634) Arteriosclerosis 3 / 7739
38
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
39
 (HPO:0002719) Recurrent infections 107 / 7739
40
 (HPO:0002925) Thyroid-stimulating hormone excess 12 / 7739
41
 (HPO:0002942) Thoracic kyphosis 14 / 7739
42
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
43
 (HPO:0003182) Shallow acetabular fossae 10 / 7739
44
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
45
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
46
 (HPO:0006453) Lateral displacement of the femoral head 1 / 7739
47
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
48
 (HPO:0007957) Corneal opacity 84 / 7739
49
 (HPO:0010701) Abnormal immunoglobulin level 49 / 7739
50
 (HPO:0003498) Disproportionate short stature 28 / 7739
51
 (OMIM) Adult male height 136-157 cm 1 / 7739
52
 (OMIM) Adult female height 107-143 cm 1 / 7739
53
 (HPO:0100817) Renovascular hypertension 9 / 7739
54
 (OMIM) Protruding abdomen 2 / 7739
55
 (OMIM) Scarred glomerular tufts 1 / 7739
56
 (OMIM) Perihilar mesangial deposition of proteinaceous material 1 / 7739
57
 (OMIM) Short, broad iliac bones 1 / 7739
58
 (OMIM) Slanted acetabular roofs 1 / 7739
59
 (OMIM) Normal intelligence 81 / 7739
60
 (OMIM) Moyamoya 1 / 7739
61
 (OMIM) Cerebral infarcts 2 / 7739
62
 (OMIM) Normal growth hormone studies 1 / 7739
63
 (OMIM) Absent mitogenic response 1 / 7739
64
 (OMIM) T-cell deficiency 2 / 7739
65
 (OMIM) Decreased CD4+ and CD3+/CD4+ lymphocytes 1 / 7739
66
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
67
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
68
 (HPO:0001538) Protuberant abdomen 36 / 7739