Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
5
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
6
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
7
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
8
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
9
 (HPO:0001250) Seizures Frequent [Orphanet] rare [HPO:skoehler] 1245 / 7739
10
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
11
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
12
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
13
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
14
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
18
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
19
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
20
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
21
 (HPO:0000639) Nystagmus Frequent [Orphanet] rare [HPO:probinson] 555 / 7739
22
 (HPO:0000499) Abnormality of the eyelashes Frequent [Orphanet] 35 / 7739
23
 (HPO:0000518) Cataract 454 / 7739
24
 (HPO:0000543) Optic disc pallor 67 / 7739
25
 (HPO:0000568) Microphthalmia 183 / 7739
26
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
27
 (HPO:0001145) Chorioretinopathy 3 / 7739
28
 (MedDRA:10038894) Retinal pigmentation 4 / 7739
29
 (HPO:0001139) Choroideremia 7 / 7739
30
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
31
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (HPO:0000505) Visual impairment 297 / 7739
34
 (HPO:0000541) Retinal detachment 87 / 7739
35
 (HPO:0000556) Retinal dystrophy 65 / 7739
36
 (HPO:0001302) Pachygyria 60 / 7739
37
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
38
 (HPO:0002059) Cerebral atrophy 171 / 7739
39
 (HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
40
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
41
 (HPO:0008052) Retinal fold 4 / 7739
42
 (HPO:0009879) Cortical gyral simplification 24 / 7739