Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
2
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0002745) Oral leukoplakia 17 / 7739
5
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
6
 (HPO:0005599) Hypopigmentation of hair Frequent [Orphanet] 38 / 7739
7
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
8
 (HPO:0001928) Abnormality of coagulation Frequent [Orphanet] 44 / 7739
9
 (HPO:0002721) Immunodeficiency 97 / 7739
10
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
11
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
12
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
13
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
14
 (HPO:0001881) Abnormality of leukocytes Occasional [Orphanet] 6 / 7739
15
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
16
 (HPO:0100678) Premature skin wrinkling Frequent [Orphanet] 25 / 7739
17
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
18
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
19
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
21
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
22
 (HPO:0000953) Hyperpigmentation of the skin Frequent [Orphanet] 75 / 7739
23
 (HPO:0001249) Intellectual disability 1089 / 7739
24
 (HPO:0001263) Global developmental delay 25 % [HPO:skoehler] 853 / 7739
25
 (HPO:0001328) Specific learning disability 114 / 7739
26
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
27
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
28
 (HPO:0000028) Cryptorchidism 347 / 7739
29
 (HPO:0000047) Hypospadias 250 / 7739
30
 (HPO:0000085) Horseshoe kidney 39 / 7739
31
 (HPO:0000486) Strabismus 576 / 7739
32
 (HPO:0000498) Blepharitis 27 / 7739
33
 (HPO:0000509) Conjunctivitis 47 / 7739
34
 (HPO:0000518) Cataract 454 / 7739
35
 (HPO:0000648) Optic atrophy 238 / 7739
36
 (HPO:0000653) Sparse eyelashes 58 / 7739
37
 (HPO:0000670) Carious teeth 145 / 7739
38
 (HPO:0000939) Osteoporosis 129 / 7739
39
 (HPO:0000975) Hyperhidrosis 64 / 7739
40
 (HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
41
 (HPO:0001394) Cirrhosis 102 / 7739
42
 (HPO:0001596) Alopecia 162 / 7739
43
 (HPO:0001741) Phimosis 5 / 7739
44
 (HPO:0001807) Ridged nail 20 / 7739
45
 (HPO:0001809) Split nail 2 / 7739
46
 (HPO:0001882) Leukopenia 51 / 7739
47
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
48
 (HPO:0002043) Esophageal stricture 7 / 7739
49
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
50
 (HPO:0002165) Pterygium of nails 2 / 7739
51
 (HPO:0002206) Pulmonary fibrosis 51 / 7739
52
 (HPO:0002216) Premature graying of hair 43 / 7739
53
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
54
 (HPO:0002863) Myelodysplasia 30 / 7739
55
 (HPO:0004334) Dermal atrophy 34 / 7739
56
 (HPO:0004808) Acute myeloid leukemia 14 / 7739
57
 (HPO:0005212) Anal mucosal leukoplakia 1 / 7739
58
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
59
 (HPO:0006480) Premature loss of teeth 23 / 7739
60
 (HPO:0007427) Reticulated skin pigmentation 7 / 7739
61
 (HPO:0008404) Nail dystrophy 89 / 7739
62
 (HPO:0008661) Urethral stenosis 9 / 7739
63
 (HPO:0008734) Decreased testicular size 105 / 7739
64
 (HPO:0009926) Increased lacrimation 8 / 7739
65
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
66
 (HPO:0012189) Hodgkin lymphoma 5 / 7739
67
 (OMIM) Conjunctival leukoplakia 1 / 7739
68
 (OMIM) Reduced diffusion capacity 8 / 7739
69
 (OMIM) Reticulated skin pigmentation, predominantly on face, neck, chest, arms (94% male patients) 1 / 7739
70
 (OMIM) Longitudinal splitting 2 / 7739
71
 (OMIM) Complete nail loss 1 / 7739
72
 (MedDRA:10030901) Opportunistic infection 1 / 7739
73
 (OMIM) Increased chromosomal rearrangements (bone marrow and fibroblast culture) 1 / 7739
74
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
75
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
76
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 47 / 7739
77
 (HPO:0001419) X-linked recessive inheritance 189 / 7739