Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
2
 (HPO:0001025) Urticaria Occasional [Orphanet] 73 / 7739
3
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
4
 (HPO:0001155) Abnormality of the hand Occasional [Orphanet] 54 / 7739
5
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
6
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
7
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
8
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
9
 (HPO:0000023) Inguinal hernia 181 / 7739
10
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
11
 (HPO:0200020) Corneal erosion 12 / 7739
12
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
13
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
14
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
15
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
16
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
17
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] Occasional [HPO:probinson] 78 / 7739
18
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
19
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
20
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
21
 (HPO:0001510) Growth delay 295 / 7739
22
 (HPO:0009380) Aplasia of the fingers Occasional [Orphanet] 51 / 7739
23
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
24
 (HPO:0100825) Cheilitis Occasional [Orphanet] 20 / 7739
25
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
26
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
27
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
28
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
29
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
30
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
31
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
32
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
33
 (HPO:0007957) Corneal opacity 84 / 7739
34
 (HPO:0000028) Cryptorchidism 347 / 7739
35
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
36
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
37
 (HPO:0000964) Eczema Frequent [Orphanet] 81 / 7739
38
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
39
 (HPO:0001019) Erythroderma 24 / 7739
40
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
41
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
42
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
43
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
44
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
45
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
46
 (HPO:0002223) Absent eyebrow 21 / 7739
47
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
48
 (HPO:0001249) Intellectual disability 1089 / 7739
49
 (HPO:0001263) Global developmental delay 853 / 7739
50
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
51
 (HPO:0000110) Renal dysplasia 44 / 7739
52
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
53
 (HPO:0000175) Cleft palate Occasional [HPO:probinson] 349 / 7739
54
 (HPO:0000365) Hearing impairment Occasional [HPO:probinson] 539 / 7739
55
 (HPO:0000561) Absent eyelashes 18 / 7739
56
 (HPO:0000772) Abnormality of the ribs 146 / 7739
57
 (HPO:0000958) Dry skin 152 / 7739
58
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
59
 (HPO:0001162) Postaxial hand polydactyly Rare [HPO:probinson] 119 / 7739
60
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
61
 (HPO:0001537) Umbilical hernia 206 / 7739
62
 (HPO:0001562) Oligohydramnios 75 / 7739
63
 (HPO:0002119) Ventriculomegaly 253 / 7739
64
 (HPO:0002164) Nail dysplasia 82 / 7739
65
 (HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
66
 (HPO:0002650) Scoliosis 705 / 7739
67
 (HPO:0002827) Hip dislocation Rare [HPO:probinson] 94 / 7739
68
 (HPO:0005254) Unilateral chest hypoplasia 2 / 7739
69
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
70
 (HPO:0008404) Nail dystrophy 89 / 7739
71
 (HPO:0012444) Brain atrophy 24 / 7739
72
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
73
 (OMIM) Vascularizing keratitis 2 / 7739
74
 (HPO:0001373) Joint dislocation 59 / 7739
75
 (HPO:0002999) Patellar dislocation 46 / 7739
76
 (HPO:0003042) Elbow dislocation 89 / 7739
77
 (HPO:0003179) Protrusio acetabuli 37 / 7739
78
 (HPO:0003834) Shoulder dislocation 28 / 7739
79
 (HPO:0003994) Dislocated wrist 24 / 7739
80
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
81
 (HPO:0012095) Multiple joint dislocation 24 / 7739
82
 (HPO:0100259) Postaxial polydactyly 85 / 7739
83
 (OMIM) Desquamation 2 / 7739
84
 (OMIM) Dry, scaly skin 3 / 7739
85
 (OMIM) Reduced numbers of hair follicles 2 / 7739
86
 (OMIM) Alopecia, generalized 2 / 7739
87
 (OMIM) Lack of eyebrows and eyelashes 2 / 7739
88
 (OMIM) Neurologic involvement (in some patients) 2 / 7739
89
 (MedDRA:10072731) White matter lesion 7 / 7739
90
 (OMIM) Deformed temporal lobes 2 / 7739
91
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
92
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
93
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
94
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
95
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
96
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
97
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
98
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
99
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
100
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
101
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
102
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
103
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
104
 (HPO:0000966) Hypohidrosis 41 / 7739
105
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
106
 (HPO:0003577) Congenital onset 133 / 7739
107
 (HPO:0003828) Variable expressivity 130 / 7739
108
 (HPO:0040189) Scaling skin 6 / 7739