|
1
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
5
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000541)
|
Retinal detachment |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001305)
|
Dandy-Walker malformation |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
13
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
14
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
15
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
16
|
(HPO:0004327)
|
Abnormality of the vitreous humor |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
18
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
19
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
20
|
(HPO:0004684)
|
Talipes valgus |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
21
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
22
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
23
|
(HPO:0002536)
|
Abnormal cortical gyration |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
24
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
25
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
26
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
27
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
30
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
31
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
|
32
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
33
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
34
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
35
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|