Symptom Information: Sort according to HPO 

1
 (HPO:0000221) Furrowed tongue Frequent [Orphanet] 24 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
3
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
4
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
5
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
6
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
7
 (HPO:0001025) Urticaria Occasional [Orphanet] 73 / 7739
8
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
9
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
10
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
11
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
12
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
13
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
14
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
15
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
16
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
17
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
18
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
19
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
20
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
21
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
22
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
23
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
24
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
25
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
26
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
27
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
28
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
29
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
30
 (HPO:0002225) Sparse pubic hair Frequent [Orphanet] 76 / 7739
31
 (HPO:0001072) Thickened skin Occasional [Orphanet] 87 / 7739
32
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
33
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
34
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 47 / 7739
35
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
36
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
37
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
38
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
40
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
41
 (HPO:0004426) Abnormality of the cheek Occasional [Orphanet] 3 / 7739
42
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
43
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
44
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
45
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
46
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
47
 (HPO:0000559) Corneal scarring 9 / 7739
48
 (HPO:0000618) Blindness 124 / 7739
49
 (HPO:0000653) Sparse eyelashes 58 / 7739
50
 (HPO:0000966) Hypohidrosis 41 / 7739
51
 (HPO:0001097) Keratoconjunctivitis sicca 25 / 7739
52
 (HPO:0001128) Trichiasis 4 / 7739
53
 (HPO:0001761) Pes cavus 225 / 7739
54
 (HPO:0002164) Nail dysplasia 82 / 7739
55
 (HPO:0002745) Oral leukoplakia 17 / 7739
56
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
57
 (HPO:0002987) Elbow flexion contracture 64 / 7739
58
 (HPO:0005406) Recurrent bacterial skin infections 7 / 7739
59
 (HPO:0006380) Knee flexion contracture 56 / 7739
60
 (HPO:0008404) Nail dystrophy 89 / 7739
61
 (HPO:0011492) Abnormality of corneal stroma 1 / 7739
62
 (HPO:0012804) Corneal ulceration 6 / 7739