1
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
2
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
3
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
4
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
5
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
6
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
7
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
9
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
10
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
11
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
12
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
13
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
14
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
15
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
16
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
17
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
18
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
19
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
20
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
22
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
23
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
25
|
(HPO:0000050)
|
Hypoplastic male external genitalia |
|
|
|
|
10 / 7739
|
26
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
27
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
28
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
29
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
30
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
31
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
32
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
33
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
34
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
35
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
36
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
37
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
38
|
(HPO:0000659)
|
Peters anomaly |
|
|
|
|
10 / 7739
|
39
|
(HPO:0001105)
|
Retinal atrophy |
|
|
|
|
10 / 7739
|
40
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
41
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
42
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
43
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
44
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
45
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
46
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
47
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
48
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
49
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
50
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
51
|
(HPO:0002189)
|
Excessive daytime sleepiness |
|
|
|
|
8 / 7739
|
52
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
53
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
54
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
55
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
56
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
57
|
(HPO:0006888)
|
Meningoencephalocele |
|
|
|
|
3 / 7739
|
58
|
(HPO:0006891)
|
Thick cerebral cortex |
|
|
|
|
2 / 7739
|
59
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
60
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
61
|
(HPO:0007291)
|
Posterior fossa cyst |
|
|
|
|
10 / 7739
|
62
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
63
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
64
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
65
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|