|
1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0002084)
|
Encephalocele |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0004327)
|
Abnormality of the vitreous humor |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0100764)
|
Lymphangioma |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0001595)
|
Abnormality of the hair |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
10
|
(HPO:0001362)
|
Calvarial skull defect |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0011800)
|
Midface retrusion |
Occasional [Orphanet]
|
|
|
|
221 / 7739
|
|
13
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
14
|
(HPO:0000541)
|
Retinal detachment |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
15
|
(HPO:0007899)
|
Retinal nonattachment |
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0001104)
|
Macular hypoplasia |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
19
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
20
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
21
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
22
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
23
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
24
|
(HPO:0001651)
|
Dextrocardia |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
25
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
26
|
(HPO:0000585)
|
Band keratopathy |
|
|
|
|
8 / 7739
|
|
27
|
(HPO:0000655)
|
Vitreoretinal degeneration |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0000667)
|
Phthisis bulbi |
|
|
|
|
4 / 7739
|
|
29
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
30
|
(HPO:0001268)
|
Mental deterioration |
rare [HPO:skoehler]
|
|
|
|
88 / 7739
|
|
31
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
32
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
33
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
|
34
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
35
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
36
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
37
|
(OMIM)
|
Syneresis |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Vitreous attachment at the disc |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Persistent fetal hyaloid vasculature |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Peripapillary atrophy |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Irregular white dots at the vitreoretinal interface |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Midline occipital bone defect |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Alopecia at the occipital defect |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Occipital dermal sinus tract |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Cerebellar ataxia, adult-onset |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Subependymal heterotopic nodules |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
48
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
49
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
51
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|