Symptom Information: Sort according to HPO 

1
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
2
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
4
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
5
 (HPO:0000498) Blepharitis Occasional [Orphanet] 27 / 7739
6
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
7
 (HPO:0000524) Conjunctival telangiectasia Very frequent [Orphanet] 17 / 7739
8
 (HPO:0000613) Photophobia Occasional [Orphanet] 158 / 7739
9
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
10
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
11
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
12
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
13
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
14
 (HPO:0001029) Poikiloderma Very frequent [Orphanet] 23 / 7739
15
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
16
 (HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
17
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
18
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
19
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
20
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
21
 (HPO:0002071) Abnormality of extrapyramidal motor function Occasional [Orphanet] 76 / 7739
22
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
23
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
24
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
25
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
26
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
27
 (HPO:0002861) Melanoma Frequent [Orphanet] 18 / 7739
28
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
29
 (HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
30
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
31
 (HPO:0100012) Neoplasm of the eye Occasional [Orphanet] 2 / 7739
32
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
33
 (HPO:0100649) Neoplasm of the oral cavity Occasional [Orphanet] 20 / 7739
34
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
35
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
36
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
37
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
38
 (HPO:0004437) Cranial hyperostosis Occasional [Orphanet] 55 / 7739
39
 (HPO:0007587) Numerous pigmented freckles Very frequent [Orphanet] 22 / 7739
40
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
41
 (HPO:0004337) Abnormality of amino acid metabolism Occasional [Orphanet] 45 / 7739
42
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
43
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
44
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
46
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
47
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
48
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
49
 (HPO:0000315) Abnormality of the orbital region Occasional [Orphanet] 18 / 7739
50
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
51
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
52
 (HPO:0012740) Papilloma Frequent [Orphanet] 17 / 7739
53
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
54
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
55
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
56
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
57
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
58
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
59
 (MedDRA:10025421) Macule Frequent [Orphanet] 55 / 7739
60
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
61
 (HPO:0001480) Freckling 13 / 7739
62
 (HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739