Symptom Information: Sort according to HPO 

1
 (HPO:0001510) Growth delay 295 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
4
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
5
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
8
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
9
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
10
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
11
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
12
 (HPO:0000028) Cryptorchidism 347 / 7739
13
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
14
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
15
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
16
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
17
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
18
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
19
 (HPO:0000110) Renal dysplasia 44 / 7739
20
 (HPO:0002251) Aganglionic megacolon Frequent [Orphanet] 78 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
22
 (HPO:0001249) Intellectual disability 1089 / 7739
23
 (HPO:0001263) Global developmental delay 853 / 7739
24
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
25
 (HPO:0000023) Inguinal hernia 181 / 7739
26
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
27
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
28
 (HPO:0200020) Corneal erosion 12 / 7739
29
 (HPO:0000613) Photophobia 158 / 7739
30
 (HPO:0000772) Abnormality of the ribs 146 / 7739
31
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
32
 (HPO:0001019) Erythroderma 24 / 7739
33
 (HPO:0001250) Seizures 1245 / 7739
34
 (HPO:0001537) Umbilical hernia 206 / 7739
35
 (HPO:0001562) Oligohydramnios 75 / 7739
36
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
37
 (HPO:0002119) Ventriculomegaly 253 / 7739
38
 (HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
39
 (HPO:0002827) Hip dislocation 94 / 7739
40
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
41
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
42
 (HPO:0005254) Unilateral chest hypoplasia 2 / 7739
43
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
44
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
45
 (HPO:0007957) Corneal opacity 84 / 7739
46
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
47
 (HPO:0008404) Nail dystrophy 89 / 7739
48
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
49
 (HPO:0012444) Brain atrophy 24 / 7739
50
 (OMIM) Vascularizing keratitis 2 / 7739
51
 (HPO:0001373) Joint dislocation 59 / 7739
52
 (HPO:0002999) Patellar dislocation 46 / 7739
53
 (HPO:0003042) Elbow dislocation 89 / 7739
54
 (HPO:0003179) Protrusio acetabuli 37 / 7739
55
 (HPO:0003834) Shoulder dislocation 28 / 7739
56
 (HPO:0003994) Dislocated wrist 24 / 7739
57
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
58
 (HPO:0012095) Multiple joint dislocation 24 / 7739
59
 (HPO:0100259) Postaxial polydactyly 85 / 7739
60
 (OMIM) Desquamation 2 / 7739
61
 (OMIM) Dry, scaly skin 3 / 7739
62
 (OMIM) Reduced numbers of hair follicles 2 / 7739
63
 (OMIM) Alopecia, generalized 2 / 7739
64
 (OMIM) Lack of eyebrows and eyelashes 2 / 7739
65
 (OMIM) Neurologic involvement (in some patients) 2 / 7739
66
 (MedDRA:10072731) White matter lesion 7 / 7739
67
 (OMIM) Deformed temporal lobes 2 / 7739
68
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
69
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
70
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
71
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
72
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
73
 (HPO:0000079) Abnormality of the urinary system Very frequent [Orphanet] 88 / 7739
74
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
75
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
76
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739