1
|
(HPO:0000050)
|
Hypoplastic male external genitalia |
|
|
|
|
10 / 7739
|
2
|
(HPO:0000003)
|
Multicystic kidney dysplasia |
|
|
|
|
17 / 7739
|
3
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
4
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
6
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
7
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
8
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
9
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
10
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
11
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
12
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
13
|
(HPO:0007899)
|
Retinal nonattachment |
|
|
|
|
10 / 7739
|
14
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
15
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
16
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
17
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
18
|
(HPO:0011478)
|
True anophthalmia |
|
|
|
|
17 / 7739
|
19
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
20
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
21
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
22
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
23
|
(HPO:0000659)
|
Peters anomaly |
|
|
|
|
10 / 7739
|
24
|
(HPO:0001105)
|
Retinal atrophy |
|
|
|
|
10 / 7739
|
25
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
26
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
27
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
28
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
29
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
30
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
31
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
32
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
33
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
34
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
35
|
(HPO:0006888)
|
Meningoencephalocele |
|
|
|
|
3 / 7739
|
36
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
37
|
(HPO:0007291)
|
Posterior fossa cyst |
|
|
|
|
10 / 7739
|
38
|
(HPO:0007901)
|
Retinal malformation |
|
|
|
|
2 / 7739
|
39
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
40
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
41
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
42
|
(HPO:0007731)
|
Chorioretinal dysplasia |
|
|
|
|
16 / 7739
|
43
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
44
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
45
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
46
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
47
|
(OMIM)
|
Exophthalmia |
|
|
|
|
3 / 7739
|
48
|
(OMIM)
|
Vitreoretinal dysgenesis (WWS) |
|
|
|
|
1 / 7739
|
49
|
(HPO:0007700)
|
Anterior segment dysgenesis |
|
|
|
|
9 / 7739
|
50
|
(OMIM)
|
Hyperplastic primary vitreous (WWS) |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Iris malformation or hypoplasia (WWS) |
|
|
|
|
1 / 7739
|
52
|
(HPO:0100335)
|
Non-midline cleft lip |
|
|
|
|
12 / 7739
|
53
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
54
|
(OMIM)
|
Virtually no active movement at birth (WWS) |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Muscle biopsy shows decreased glycosylation of alpha-dystroglycan |
|
|
|
|
9 / 7739
|
56
|
(OMIM)
|
Disorganized brain cytoarchitecture |
|
|
|
|
2 / 7739
|
57
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
58
|
(OMIM)
|
White matter changes |
|
|
|
|
7 / 7739
|
59
|
(OMIM)
|
Flattening of the pons |
|
|
|
|
3 / 7739
|
60
|
(OMIM)
|
Complete or partial absence of the corpus callosum |
|
|
|
|
2 / 7739
|
61
|
(OMIM)
|
Thin cortical mantle (WWS) |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Cobblestone lissencephaly, type II |
|
|
|
|
3 / 7739
|
63
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
64
|
(OMIM)
|
Fused hemispheres (WWS) |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Cerebellar hypoplasia, severe (WWS) |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Virtual absence of pyramidal tracts (WWS) |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Pachygyria with preferential frontoparietal involvement (MEB) |
|
|
|
|
2 / 7739
|
68
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|