Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
2
 (HPO:0004378) Abnormality of the anus Very frequent [Orphanet] 34 / 7739
3
 (HPO:0000221) Furrowed tongue Very frequent [Orphanet] 24 / 7739
4
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
5
 (HPO:0000790) Hematuria Occasional [Orphanet] rare [HPO:skoehler] 106 / 7739
6
 (HPO:0002907) Microscopic hematuria 27 / 7739
7
 (HPO:0002575) Tracheoesophageal fistula Very frequent [Orphanet] 54 / 7739
8
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
9
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
10
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
11
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
12
 (HPO:0002206) Pulmonary fibrosis Frequent [Orphanet] 51 / 7739
13
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
14
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
15
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
16
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
17
 (HPO:0000565) Esotropia 58 / 7739
18
 (HPO:0000618) Blindness 124 / 7739
19
 (HPO:0001096) Keratoconjunctivitis 3 / 7739
20
 (HPO:0001596) Alopecia 162 / 7739
21
 (HPO:0001648) Cor pulmonale 16 / 7739
22
 (HPO:0001880) Eosinophilia 35 / 7739
23
 (HPO:0002028) Chronic diarrhea rare [HPO:skoehler] 51 / 7739
24
 (HPO:0002090) Pneumonia 59 / 7739
25
 (HPO:0002164) Nail dysplasia rare [HPO:skoehler] 82 / 7739
26
 (HPO:0002208) Coarse hair 58 / 7739
27
 (HPO:0002249) Melena rare [HPO:skoehler] 11 / 7739
28
 (HPO:0002728) Chronic mucocutaneous candidiasis 14 / 7739
29
 (HPO:0006532) Recurrent pneumonia rare [HPO:skoehler] 48 / 7739
30
 (HPO:0006552) Fibrocystic lung disease 1 / 7739
31
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
32
 (HPO:0007957) Corneal opacity 84 / 7739
33
 (HPO:0008396) Chronic monilial nail infection 1 / 7739
34
 (HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
35
 (HPO:0011496) Corneal neovascularization 7 / 7739
36
 (OMIM) Otitis, recurrent 7 / 7739
37
 (OMIM) Tearing 2 / 7739
38
 (HPO:0000491) Keratitis 21 / 7739
39
 (OMIM) Pannus formation 1 / 7739
40
 (HPO:0000529) Progressive visual loss 54 / 7739
41
 (HPO:0000246) Sinusitis 73 / 7739
42
 (OMIM) Red gingiva 1 / 7739
43
 (OMIM) Red hard palate 1 / 7739
44
 (OMIM) Beefy red tongue 1 / 7739
45
 (OMIM) Deeply fissured tongue 1 / 7739
46
 (OMIM) Fibrotic lung disease (reported in 1 family) 1 / 7739
47
 (HPO:0002014) Diarrhea 225 / 7739
48
 (OMIM) Esophageal webbing (less common) 1 / 7739
49
 (OMIM) Dry, rough skin 1 / 7739
50
 (OMIM) Mucosal lesions affecting all regions (i.e., oral, nasal, vaginal, anal, bladder, conjunctival regions) 1 / 7739
51
 (OMIM) Red mucosa 1 / 7739
52
 (OMIM) Perineal intertrigo 1 / 7739
53
 (OMIM) Psoriasiform plaques 1 / 7739
54
 (MedDRA:10023369) Keratosis follicular 5 / 7739
55
 (HPO:0001056) Milia 24 / 7739
56
 (HPO:0200034) Papule 12 / 7739
57
 (OMIM) Abnormal Pap smears of all mucosal regions 1 / 7739
58
 (OMIM) Decreased number of epithelia cells 1 / 7739
59
 (OMIM) Thin epithelial cell layer 1 / 7739
60
 (OMIM) Dyshesion of epithelial cells 1 / 7739
61
 (OMIM) Lack of maturation of epithelial cells 1 / 7739
62
 (OMIM) Lack of normal keratinization 1 / 7739
63
 (OMIM) Dyskeratosis 2 / 7739
64
 (OMIM) Epithelial cells show cytoplasmic inclusions containing lamellar bands 1 / 7739
65
 (OMIM) Bundles of tonofilaments 1 / 7739
66
 (OMIM) Paucity of desmosomes 1 / 7739
67
 (OMIM) Paucity of gap junctions 1 / 7739
68
 (OMIM) Vacuolization 2 / 7739
69
 (OMIM) Scant hair 1 / 7739
70
 (OMIM) Nonscarring alopecia 1 / 7739
71
 (OMIM) Recurrent infections of mucosal surfaces 1 / 7739
72
 (OMIM) Eosinophilia, mild 1 / 7739
73
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
74
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
75
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
76
 (HPO:0003577) Congenital onset 133 / 7739