Symptom Information: Sort according to HPO 

1
 (HPO:0004378) Abnormality of the anus Very frequent [Orphanet] 34 / 7739
2
 (HPO:0009733) Glioma Occasional [Orphanet] 8 / 7739
3
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
4
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
5
 (HPO:0000992) Cutaneous photosensitivity Occasional [Orphanet] 75 / 7739
6
 (HPO:0001878) Hemolytic anemia Very frequent [Orphanet] 83 / 7739
7
 (HPO:0002664) Neoplasm Frequent [Orphanet] 111 / 7739
8
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
9
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
10
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
11
 (HPO:0000175) Cleft palate 349 / 7739
12
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
13
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
14
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
15
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
16
 (HPO:0000294) Low anterior hairline Very frequent [Orphanet] 52 / 7739
17
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
18
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
21
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
22
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
23
 (HPO:0007587) Numerous pigmented freckles Occasional [Orphanet] 22 / 7739
24
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
25
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
26
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
27
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
28
 (HPO:0000126) Hydronephrosis 119 / 7739
29
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
30
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
31
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
32
 (HPO:0000752) Hyperactivity Very frequent [Orphanet] 140 / 7739
33
 (HPO:0002002) Deep philtrum Very frequent [Orphanet] 42 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
35
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
36
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
37
 (HPO:0002885) Medulloblastoma Occasional [Orphanet] 20 / 7739
38
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
39
 (HPO:0003189) Long nose 20 / 7739
40
 (HPO:0001249) Intellectual disability 1089 / 7739
41
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
42
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
43
 (HPO:0000265) Mastoiditis 2 / 7739
44
 (HPO:0000388) Otitis media 28 / 7739
45
 (HPO:0000400) Macrotia 108 / 7739
46
 (HPO:0000453) Choanal atresia 76 / 7739
47
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
48
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
49
 (HPO:0001587) Primary ovarian failure 9 / 7739
50
 (HPO:0001890) Autoimmune hemolytic anemia 17 / 7739
51
 (HPO:0002014) Diarrhea 225 / 7739
52
 (HPO:0002025) Anal stenosis 23 / 7739
53
 (HPO:0002110) Bronchiectasis 73 / 7739
54
 (HPO:0002180) Neurodegeneration 31 / 7739
55
 (HPO:0002837) Recurrent bronchitis 21 / 7739
56
 (HPO:0002859) Rhabdomyosarcoma 10 / 7739
57
 (HPO:0002961) Dysgammaglobulinemia 3 / 7739
58
 (HPO:0004798) Recurrent infection of the gastrointestinal tract 9 / 7739
59
 (HPO:0005403) T lymphocytopenia 10 / 7739
60
 (HPO:0005602) Progressive vitiligo 2 / 7739
61
 (HPO:0006532) Recurrent pneumonia 48 / 7739
62
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Frequent [Orphanet] 17 / 7739
63
 (HPO:0010620) Malar prominence 7 / 7739
64
 (HPO:0010976) B lymphocytopenia 8 / 7739
65
 (OMIM) Short stature, most below 3rd percentile for height 1 / 7739
66
 (HPO:0012387) Bronchitis 8 / 7739
67
 (OMIM) Diarrhea and recurrent GI infections 1 / 7739
68
 (OMIM) Depigmented spots 1 / 7739
69
 (OMIM) Normal IQ in infancy, then IQ drops with age 1 / 7739
70
 (OMIM) Mental retardation by the age of 7 years 1 / 7739
71
 (OMIM) Thrombocytopenia post hemolytic anemia 1 / 7739
72
 (OMIM) Mild to moderately reduced T cell count 1 / 7739
73
 (OMIM) Relatively increased number of natural killer cells 1 / 7739
74
 (OMIM) Normal alpha fetoprotein 1 / 7739
75
 (OMIM) Low CD4+ count 1 / 7739
76
 (OMIM) Low CD4+/CD8+ ratio 1 / 7739
77
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
78
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
79
 (HPO:0003011) Abnormality of the musculature Occasional [Orphanet] 47 / 7739
80
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
81
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
82
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739