Symptom Information: Sort according to HPO 

1
 (HPO:0000733) Stereotypy Frequent [Orphanet] 58 / 7739
2
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
3
 (HPO:0007973) Retinal dysplasia 27 / 7739
4
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
5
 (HPO:0004327) Abnormality of the vitreous humor Frequent [Orphanet] 14 / 7739
6
 (HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
7
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
8
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
9
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
10
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
11
 (HPO:0000568) Microphthalmia 183 / 7739
12
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
13
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
14
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
15
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
16
 (HPO:0000726) Dementia 131 / 7739
17
 (HPO:0000648) Optic atrophy 238 / 7739
18
 (HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21 / 7739
19
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
20
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
21
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
22
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
23
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
24
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
25
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
26
 (HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
27
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
28
 (HPO:0000709) Psychosis 61 / 7739
29
 (HPO:0000718) Aggressive behavior 109 / 7739
30
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
31
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
32
 (HPO:0100639) Erectile abnormalities Frequent [Orphanet] 15 / 7739
33
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
34
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
35
 (HPO:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
36
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
37
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
38
 (HPO:0100012) Neoplasm of the eye Very frequent [Orphanet] 2 / 7739
39
 (HPO:0000647) Sclerocornea Very frequent [Orphanet] 25 / 7739
40
 (HPO:0002363) Abnormality of brainstem morphology Occasional [Orphanet] 14 / 7739
41
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
42
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
43
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
44
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
45
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
46
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
47
 (HPO:0007957) Corneal opacity 84 / 7739
48
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
49
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
50
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
51
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
52
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
53
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
54
 (HPO:0000594) Shallow anterior chamber 8 / 7739
55
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
56
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
57
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
58
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
59
 (HPO:0010662) Abnormality of the diencephalon Occasional [Orphanet] 6 / 7739
60
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
61
 (HPO:0011039) Abnormality of the helix Occasional [Orphanet] 33 / 7739
62
 (HPO:0100742) Vascular neoplasm Very frequent [Orphanet] 3 / 7739
63
 (OMIM) Intraocular retrolental masses, bilateral ('pseudoglioma') 1 / 7739
64
 (OMIM) Retinal folds 1 / 7739
65
 (OMIM) Phthisical globe 1 / 7739
66
 (OMIM) Vitreal opacities 1 / 7739
67
 (OMIM) Histopathology shows rosettes of immature retinal cells in vascular connective tissue 1 / 7739
68
 (OMIM) Hyperplastic vitreous 1 / 7739
69
 (OMIM) Iris synechiae 1 / 7739
70
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
71
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
72
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
73
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
74
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
75
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
76
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
77
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
78
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
79
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
80
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
81
 (HPO:0011484) Posterior synechiae of the anterior chamber Very frequent [Orphanet] 5 / 7739
82
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
83
 (HPO:0000517) Abnormality of the lens Frequent [Orphanet] 12 / 7739
84
 (HPO:0000618) Blindness 124 / 7739
85
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
86
 (HPO:0008052) Retinal fold 4 / 7739