Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive Occasional [Orphanet] 454 / 7739
2
 (HPO:0001510) Growth delay Occasional [Orphanet] 295 / 7739
3
 (HPO:0011968) Feeding difficulties Occasional [Orphanet] 240 / 7739
4
 (HPO:0000992) Cutaneous photosensitivity Frequent [Orphanet] 75 / 7739
5
 (HPO:0002664) Neoplasm Very frequent [Orphanet] 111 / 7739
6
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
7
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
8
 (HPO:0000271) Abnormality of the face Frequent [Orphanet] 108 / 7739
9
 (HPO:0000789) Infertility Occasional [Orphanet] 74 / 7739
10
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
11
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
12
 (HPO:0011354) Generalized abnormality of skin Very frequent [Orphanet] 7 / 7739
13
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
14
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
15
 (HPO:0000960) Sacral dimple Occasional [Orphanet] 29 / 7739
16
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] occasional [HPO] 35 / 7739
17
 (HPO:0010771) Pilonidal abscess Occasional [Orphanet] occasional [HPO] 1 / 7739
18
 (HPO:0001009) Telangiectasia Frequent [Orphanet] typical [HPO] 46 / 7739
19
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
20
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
21
 (HPO:0010669) Hypoplasia of the zygomatic bone Very frequent [Orphanet] 3 / 7739
22
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
23
 (HPO:0009904) Prominent ear helix Occasional [Orphanet] 8 / 7739
24
 (HPO:0002718) Recurrent bacterial infections Very frequent [Orphanet] 75 / 7739
25
 (HPO:0002719) Recurrent infections Very frequent [Orphanet] 107 / 7739
26
 (HPO:0002721) Immunodeficiency Very frequent [Orphanet] 97 / 7739
27
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
28
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
29
 (HPO:0001611) Nasal speech Frequent [Orphanet] 48 / 7739
30
 (HPO:0008376) Nasal, dysarthic speech Frequent [Orphanet] 8 / 7739
31
 (HPO:0100271) Hyponasal speech Frequent [Orphanet] 7 / 7739
32
 (HPO:0000975) Hyperhidrosis Occasional [Orphanet] 64 / 7739
33
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
34
 (HPO:0007427) Reticulated skin pigmentation Very frequent [Orphanet] 7 / 7739
35
 (HPO:0007588) Reticular hyperpigmentation Very frequent [Orphanet] 9 / 7739
36
 (HPO:0002014) Diarrhea Very frequent [Orphanet] 225 / 7739
37
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
38
 (HPO:0005526) Lymphoid leukemia Occasional [Orphanet] occasional [HPO] 4 / 7739
39
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
40
 (HPO:0200040) Epidermoid cyst Occasional [Orphanet] 35 / 7739
41
 (HPO:0004313) Decreased antibody level in blood Occasional [Orphanet] 47 / 7739
42
 (HPO:0004432) Agammaglobulinemia Occasional [Orphanet] 17 / 7739
43
 (HPO:0000308) Microretrognathia Frequent [Orphanet] typical [HPO] 78 / 7739
44
 (HPO:0000331) Short chin Frequent [Orphanet] typical [HPO] 33 / 7739
45
 (HPO:0000347) Micrognathia Frequent [Orphanet] 426 / 7739
46
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
47
 (HPO:0011947) Respiratory tract infection Very frequent [Orphanet] hallmark [HPO] 28 / 7739
48
 (HPO:0001019) Erythroderma Very frequent [Orphanet] 24 / 7739
49
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
50
 (HPO:0007378) Neoplasm of the gastrointestinal tract Occasional [Orphanet] 11 / 7739
51
 (HPO:0100723) Gastrointestinal stroma tumor Occasional [Orphanet] occasional [HPO] 7 / 7739
52
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
53
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
54
 (HPO:0005590) Spotty hypopigmentation Occasional [Orphanet] occasional [HPO] 10 / 7739
55
 (HPO:0000668) Hypodontia Occasional [Orphanet] 81 / 7739
56
 (HPO:0000674) Anodontia Occasional [Orphanet] 18 / 7739
57
 (HPO:0000677) Oligodontia Occasional [Orphanet] 41 / 7739
58
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
59
 (HPO:0010554) Cutaneous finger syndactyly Occasional [Orphanet] 39 / 7739
60
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
61
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
62
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
63
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
64
 (HPO:0012384) Rhinitis Very frequent [Orphanet] 18 / 7739
65
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
66
 (HPO:0004408) Abnormality of the sense of smell Very frequent [Orphanet] 28 / 7739
67
 (HPO:0001249) Intellectual disability Occasional [Orphanet] 1089 / 7739
68
 (HPO:0001263) Global developmental delay Occasional [Orphanet] 853 / 7739
69
 (HPO:0001270) Motor delay Occasional [Orphanet] 322 / 7739
70
 (HPO:0001328) Specific learning disability Occasional [Orphanet] 114 / 7739
71
 (HPO:0001216) Delayed ossification of carpal bones Very frequent [Orphanet] hallmark [HPO] 30 / 7739
72
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
73
 (HPO:0000027) Azoospermia 28 / 7739
74
 (HPO:0000028) Cryptorchidism 347 / 7739
75
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
76
 (HPO:0000144) Decreased fertility Occasional [Orphanet] 11 / 7739
77
 (HPO:0000276) Long face 109 / 7739
78
 (HPO:0000356) Abnormality of the outer ear 85 / 7739
79
 (HPO:0000377) Abnormality of the pinna Occasional [Orphanet] 111 / 7739
80
 (HPO:0008572) External ear malformation 6 / 7739
81
 (HPO:0000448) Prominent nose 56 / 7739
82
 (HPO:0000690) Agenesis of maxillary lateral incisor 4 / 7739
83
 (HPO:0000868) Decreased fertility in females 3 / 7739
84
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
85
 (HPO:0007429) Few cafe-au-lait spots 7 / 7739
86
 (HPO:0007565) Multiple cafe-au-lait spots 11 / 7739
87
 (HPO:0000998) Hypertrichosis 52 / 7739
88
 (HPO:0001007) Hirsutism 91 / 7739
89
 (HPO:0002230) Generalized hirsutism 32 / 7739
90
 (HPO:0004554) Generalized hypertrichosis 30 / 7739
91
 (HPO:0001159) Syndactyly 140 / 7739
92
 (HPO:0001256) Intellectual disability, mild 141 / 7739
93
 (HPO:0001620) High pitched voice 32 / 7739
94
 (HPO:0001909) Leukemia 46 / 7739
95
 (HPO:0002110) Bronchiectasis 73 / 7739
96
 (HPO:0002720) IgA deficiency 33 / 7739
97
 (HPO:0002850) IgM deficiency 18 / 7739
98
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
99
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
100
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
101
 (HPO:0004315) IgG deficiency 38 / 7739
102
 (HPO:0005585) Spotty hyperpigmentation 8 / 7739
103
 (HPO:0005598) Facial telangiectasia in butterfly midface distribution 2 / 7739
104
 (HPO:0005978) Type II diabetes mellitus 68 / 7739
105
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
106
 (HPO:0006528) Chronic lung disease 5 / 7739
107
 (HPO:0008897) Postnatal growth retardation 113 / 7739
108
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
109
 (OMIM) Average adult male height 151cm 1 / 7739
110
 (OMIM) Average adult female height 144cm 1 / 7739
111
 (OMIM) Narrow 3 / 7739
112
 (HPO:0010442) Polydactyly 69 / 7739
113
 (OMIM) Mild mental retardation in some 1 / 7739
114
 (OMIM) High-pitched 1 / 7739
115
 (OMIM) Impaired lymphocyte proliferation response to malignancy 1 / 7739
116
 (MedDRA:10001141) Adenocarcinoma 2 / 7739
117
 (OMIM) Hypersensitivity to chemotherapy 1 / 7739
118
 (OMIM) High sister chromatid exchange (SCE) rate 1 / 7739
119
 (OMIM) SCE normal in heterozygotes 1 / 7739
120
 (OMIM) Decreased IgA, IgG, IgM 1 / 7739