Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
3
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
4
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
5
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
6
 (HPO:0100555) Asymmetric growth Frequent [Orphanet] 25 / 7739
7
 (HPO:0001257) Spasticity 251 / 7739
8
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
9
 (HPO:0000568) Microphthalmia 183 / 7739
10
 (HPO:0008388) Abnormality of the toenails Occasional [Orphanet] 28 / 7739
11
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
12
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
13
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
14
 (HPO:0001807) Ridged nail 20 / 7739
15
 (HPO:0002797) Osteolysis Frequent [Orphanet] 68 / 7739
16
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
17
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
18
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
19
 (HPO:0000491) Keratitis 21 / 7739
20
 (HPO:0000554) Uveitis 10 / 7739
21
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
22
 (HPO:0001879) Abnormality of eosinophils Frequent [Orphanet] 20 / 7739
23
 (HPO:0001880) Eosinophilia 35 / 7739
24
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
25
 (HPO:0004050) Absent hand Occasional [Orphanet] 9 / 7739
26
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
27
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
28
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
29
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
30
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
31
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
32
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
33
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
34
 (HPO:0002383) Encephalitis Occasional [Orphanet] 41 / 7739
35
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
36
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
37
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
38
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
39
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
40
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
41
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
42
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
43
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
44
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
45
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
46
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
47
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
48
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
49
 (HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
50
 (HPO:0000668) Hypodontia 81 / 7739
51
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
52
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
53
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
54
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
55
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
56
 (HPO:0001249) Intellectual disability 1089 / 7739
57
 (HPO:0000252) Microcephaly 832 / 7739
58
 (HPO:0000573) Retinal hemorrhage 13 / 7739
59
 (HPO:0000648) Optic atrophy 238 / 7739
60
 (HPO:0001803) Nail pits 17 / 7739
61
 (HPO:0002164) Nail dysplasia 82 / 7739
62
 (HPO:0002208) Coarse hair 58 / 7739
63
 (HPO:0002213) Fine hair 77 / 7739
64
 (HPO:0002557) Hypoplastic nipples 33 / 7739
65
 (HPO:0002751) Kyphoscoliosis 131 / 7739
66
 (HPO:0002937) Hemivertebrae 41 / 7739
67
 (HPO:0003187) Breast hypoplasia 17 / 7739
68
 (HPO:0100783) Breast aplasia 19 / 7739
69
 (HPO:0004529) Atrophic, patchy alopecia 1 / 7739
70
 (HPO:0005815) Supernumerary ribs 9 / 7739
71
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
72
 (HPO:0007850) Retinal vascular proliferation 1 / 7739
73
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
74
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
75
 (HPO:0008070) Sparse hair 94 / 7739
76
 (HPO:0008404) Nail dystrophy 89 / 7739
77
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
78
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
79
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
80
 (HPO:0100699) Scarring 9 / 7739
81
 (OMIM) Retinal ischemia 1 / 7739
82
 (MedDRA:10071391) Retinal fibrosis 1 / 7739
83
 (OMIM) Conical forms 1 / 7739
84
 (OMIM) Accessory cusps 1 / 7739
85
 (OMIM) STAGE 1 - skin erythema, vesicles, pustules 1 / 7739
86
 (OMIM) Onset birth-newborn period 1 / 7739
87
 (OMIM) Affects limbs and trunk 1 / 7739
88
 (OMIM) Occurs in linear distribution 1 / 7739
89
 (OMIM) STAGE 2 - Skin papules, verrucous lesions, hyperkeratosis 1 / 7739
90
 (OMIM) Affects distal limb and scalp 1 / 7739
91
 (OMIM) STAGE 3 - Skin hyperpigmentation 1 / 7739
92
 (OMIM) Primarily affects trunk 1 / 7739
93
 (OMIM) Follows Blaschko's lines 1 / 7739
94
 (OMIM) Streaks and whorls 1 / 7739
95
 (OMIM) Fades in adolescence 1 / 7739
96
 (OMIM) STAGE 4 - skin pallor, atrophy, and scarring 1 / 7739
97
 (OMIM) Most evident on lower legs 1 / 7739
98
 (OMIM) Subungual keratotic tumors 1 / 7739
99
 (OMIM) Wiry, coarse hair (childhood) 1 / 7739
100
 (OMIM) Leukocytosis with eosinophilia during stage 1 1 / 7739
101
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
102
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
103
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
104
 (HPO:0012740) Papilloma Very frequent [Orphanet] 17 / 7739
105
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
106
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
107
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
108
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
109
 (HPO:0001423) X-linked dominant inheritance 69 / 7739