Symptom Information: Sort according to HPO 

1
 (HPO:0001015) Prominent superficial veins Frequent [IBIS] 87.5% (n=16) 22050868 IBIS 7 / 7739
2
 (HPO:0000271) Abnormality of the face Frequent [IBIS] 75 % (n=16) 23171239 IBIS 108 / 7739
3
 (HPO:0001631) Atria septal defect Frequent [IBIS] 74.5% (n=51) 23171239 IBIS 274 / 7739
4
 (HPO:0001873) Thrombocytopenia Frequent [IBIS] 58% (n=50) 23171239 IBIS 224 / 7739
5
 (HPO:0000028) Cryptorchidism Frequent [IBIS] 52% (n=33) 23171239 IBIS 347 / 7739
6
 (HPO:0001508) Failure to thrive Frequent [IBIS] 43.8% (n=16) 22050868 IBIS 454 / 7739
7
 (HPO:0000973) Cutis laxa Occasional [IBIS] 12.5 % (n=16) 22050868 IBIS 43 / 7739
8
 (HPO:0008689) Bilateral cryptorchidism 24796372 IBIS 38 / 7739
9
 (HPO:0000126) Hydronephrosis 23056709 IBIS 119 / 7739
10
 (HPO:0000175) Cleft palate 20717171 IBIS 349 / 7739
11
 (HPO:0000252) Microcephaly 20717171 IBIS 832 / 7739
12
 (HPO:0000365) Hearing impairment 25391451 IBIS 539 / 7739
13
 (HPO:0000431) Wide nasal bridge 22050868 IBIS 290 / 7739
14
 (HPO:0000768) Pectus carinatum 20717171 IBIS 136 / 7739
15
 (HPO:0000778) Hypoplasia of the thymus 19011569 IBIS 13 / 7739
16
 (HPO:0000954) Single transverse palmar crease 20717171 IBIS 162 / 7739
17
 (HPO:0007598) Bilateral single transverse palmar creases 20717171 IBIS 13 / 7739
18
 (HPO:0001249) Intellectual disability 22050868 IBIS 1089 / 7739
19
 (HPO:0001263) Global developmental delay 20717171 IBIS 853 / 7739
20
 (HPO:0001510) Growth delay 20717171 IBIS 295 / 7739
21
 (HPO:0001671) Abnormality of the cardiac septa 23171239 IBIS 55 / 7739
22
 (HPO:0001642) Pulmonic stenosis 23171239 IBIS 89 / 7739
23
 (HPO:0004415) Pulmonary artery stenosis 23171239 IBIS 25 / 7739
24
 (HPO:0001643) Patent ductus arteriosus 23056709 IBIS 228 / 7739
25
 (HPO:0011648) Patent ductus arteriosus after birth at term 23056709 IBIS 18 / 7739
26
 (HPO:0001653) Mitral regurgitation 23171239 IBIS 64 / 7739
27
 (HPO:0001744) Splenomegaly 24796372 IBIS 337 / 7739
28
 (HPO:0001875) Neutropenia 25288127 IBIS 83 / 7739
29
 (HPO:0001882) Leukopenia 25288127 IBIS 51 / 7739
30
 (HPO:0001888) Lymphopenia 19011569 IBIS 43 / 7739
31
 (HPO:0001903) Anemia 19011569 IBIS 289 / 7739
32
 (HPO:0002093) Respiratory insufficiency 19011569 IBIS 410 / 7739
33
 (HPO:0002205) Recurrent respiratory infections 20717171 IBIS 254 / 7739
34
 (HPO:0011947) Respiratory tract infection 25391451 IBIS 28 / 7739
35
 (HPO:0002240) Hepatomegaly 24796372 IBIS 467 / 7739
36
 (HPO:0002619) Varicose veins 20717171 IBIS 11 / 7739
37
 (HPO:0002718) Recurrent bacterial infections 19118303 IBIS 75 / 7739
38
 (HPO:0002719) Recurrent infections 19118303 IBIS 107 / 7739
39
 (HPO:0002721) Immunodeficiency 20717171 IBIS 97 / 7739
40
 (HPO:0011304) Broad thumb 20717171 IBIS 39 / 7739
41
 (HPO:0012133) Erythroid hypoplasia 20717171 IBIS 5 / 7739
42
 (HPO:0012311) Monocytosis 19011569 IBIS 10 / 7739
43
 (HPO:0100806) Sepsis 23441086 IBIS 48 / 7739
44
 (HPO:0002092) Pulmonary hypertension 19011569 IBIS 109 / 7739
45
 (HPO:0000089) Renal hypoplasia 22050868 IBIS 78 / 7739
46
 (HPO:0000104) Renal agenesis 20717171 IBIS 68 / 7739
47
 (HPO:0000122) Unilateral renal agenesis 20717171 IBIS 24 / 7739
48
 (HPO:0010958) Bilateral renal agenesis 22050868 IBIS 16 / 7739
49
 (HPO:0200042) Skin ulcer 20717171 IBIS 138 / 7739
50
 (HPO:0001328) Specific learning disability 20717171 IBIS 114 / 7739
51
 (OMIM) Poor secondary sexual development (1 family) 20717171 IBIS 1 / 7739
52
 (HPO:0004854) Intermittent thrombocytopenia 25391451 IBIS 3 / 7739
53
 (OMIM) Dysplastic changes in all cell lineages in the bone marrow 20975743 IBIS 1 / 7739
54
 (OMIM) Vacuolization in myeloid cell lines in the bone marrow 20616219 IBIS 1 / 7739
55
 (OMIM) Few mature neutrophils in the bone marrow 20975743 IBIS 1 / 7739
56
 (HPO:0011993) Impaired neutrophil bactericidal activity 20616219 IBIS 3 / 7739
57
 (HPO:0010974) Abnormality of myeloid leukocytes 25288127 IBIS 6 / 7739
58
 (HPO:0010977) Abnormality of phagocytes 25288127 IBIS 4 / 7739
59
 (HPO:0004311) Abnormality of macrophages 25288127 IBIS 7 / 7739
60
 (HPO:0004363) Abnormality of calcium homeostasis 25288127 IBIS 4 / 7739
61
 (HPO:0002037) Inflammation of the large intestine 25288127 IBIS 25 / 7739
62
 (HPO:0003206) Decreased activity of NADPH oxidase 25288127 IBIS 8 / 7739
63
 (HPO:0001999) Abnormal facial shape 20717171 IBIS 169 / 7739
64
 (HPO:0030680) Abnormality of cardiovascular system morphology 20717171 IBIS 355 / 7739
65
 (HPO:0000823) Delayed puberty 25391451 IBIS 65 / 7739
66
 (HPO:0001684) Secundum atrial septal defect 19011569 IBIS 14 / 7739
67
 (HPO:0002007) Frontal bossing 25391451 IBIS 366 / 7739
68
 (HPO:0000278) Retrognathia 25391451 IBIS 100 / 7739
69
 (HPO:0000815) Hypergonadotropic hypogonadism 25391451 IBIS 48 / 7739
70
 (HPO:0011107) Recurrent aphthous stomatitis 25391451 IBIS 13 / 7739
71
 (HPO:0000054) Micropenis 25391451 IBIS 257 / 7739
72
 (HPO:0000272) Malar flattening 25391451 IBIS 277 / 7739
73
 (HPO:0000821) Hypothyroidism 25391451 IBIS 141 / 7739
74
 (HPO:0000498) Blepharitis 23441086 IBIS 27 / 7739
75
 (HPO:0000155) Oral ulcer 23441086 IBIS 9 / 7739
76
 (HPO:0100540) Palpebral edema 23441086 IBIS 31 / 7739
77
 (HPO:0000303) Mandibular prognathia 23171239 IBIS 179 / 7739
78
 (HPO:0000058) Abnormality of the labia 22050868 IBIS 1 / 7739
79
 (HPO:0002557) Hypoplastic nipples 22050868 IBIS 33 / 7739
80
 (HPO:0000824) Growth hormone deficiency 20717171 IBIS 56 / 7739
81
 (HPO:0000023) Inguinal hernia 20717171 IBIS 181 / 7739
82
 (HPO:0040019) Finger clinodactyly 20717171 IBIS 1 / 7739
83
 (HPO:0007552) Abnormal subcutaneous fat tissue distribution 20717171 IBIS 12 / 7739
84
 (HPO:0008187) Absence of secondary sex characteristics 20717171 IBIS 5 / 7739
85
 (HPO:0001874) Abnormality of neutrophils 20975743 IBIS 47 / 7739