Symptom Information: Sort according to HPO 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
3
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
4
 (HPO:0000534) Abnormality of the eyebrow Occasional [Orphanet] 39 / 7739
5
 (HPO:0000600) Abnormality of the pharynx Frequent [Orphanet] 22 / 7739
6
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
7
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
8
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
9
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
10
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
11
 (HPO:0001399) Hepatic failure Occasional [Orphanet] 80 / 7739
12
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
13
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
14
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
15
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
16
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
17
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
18
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
19
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
20
 (HPO:0002216) Premature graying of hair Occasional [Orphanet] 43 / 7739
21
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
22
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
23
 (HPO:0002575) Tracheoesophageal fistula Frequent [Orphanet] 54 / 7739
24
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
25
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
26
 (HPO:0002894) Neoplasm of the pancreas Occasional [Orphanet] 17 / 7739
27
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
28
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
29
 (HPO:0005352) Severe T-cell immunodeficiency Frequent [Orphanet] 20 / 7739
30
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
31
 (HPO:0200037) Skin vesicle Occasional [Orphanet] 102 / 7739
32
 (HPO:0010885) Aseptic necrosis Occasional [Orphanet] 24 / 7739
33
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
34
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
35
 (HPO:0100670) Rough bone trabeculation Frequent [Orphanet] 12 / 7739
36
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
37
 (HPO:0004378) Abnormality of the anus Frequent [Orphanet] 34 / 7739
38
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
39
 (HPO:0002571) Achalasia Frequent [Orphanet] 19 / 7739
40
 (HPO:0002664) Neoplasm Frequent [Orphanet] 111 / 7739
41
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
42
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
43
 (HPO:0001022) Albinism Occasional [Orphanet] 43 / 7739
44
 (HPO:0000327) Hypoplasia of the maxilla Occasional [Orphanet] 129 / 7739
45
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
46
 (HPO:0001876) Pancytopenia Frequent [Orphanet] 89 / 7739
47
 (HPO:0003010) Prolonged bleeding time Frequent [Orphanet] 88 / 7739
48
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
49
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
50
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
51
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
52
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
53
 (HPO:0000795) Abnormality of the urethra Frequent [Orphanet] 38 / 7739
54
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
56
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
57
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
58
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
59
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
60
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
61
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
62
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
63
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
64
 (HPO:0000939) Osteoporosis 129 / 7739
65
 (HPO:0001251) Ataxia 413 / 7739
66
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
67
 (HPO:0001328) Specific learning disability 114 / 7739
68
 (HPO:0001803) Nail pits 17 / 7739
69
 (HPO:0001807) Ridged nail 20 / 7739
70
 (HPO:0001888) Lymphopenia 43 / 7739
71
 (HPO:0001915) Aplastic anemia 16 / 7739
72
 (HPO:0002206) Pulmonary fibrosis 51 / 7739
73
 (HPO:0002745) Oral leukoplakia 17 / 7739
74
 (HPO:0002863) Myelodysplasia 30 / 7739
75
 (HPO:0003812) Phenotypic variability 129 / 7739
76
 (HPO:0004334) Dermal atrophy 34 / 7739
77
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
78
 (HPO:0006480) Premature loss of teeth 23 / 7739
79
 (HPO:0006515) Interstitial pneumonitis 13 / 7739
80
 (HPO:0006739) Squamous cell carcinoma of the skin 6 / 7739
81
 (HPO:0007588) Reticular hyperpigmentation 9 / 7739
82
 (HPO:0008070) Sparse hair 94 / 7739
83
 (HPO:0008404) Nail dystrophy 89 / 7739