|
1
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
7
|
(HPO:0001004)
|
Lymphedema |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
11
|
(HPO:0001640)
|
Cardiomegaly |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0002019)
|
Constipation |
Occasional [Orphanet]
|
|
|
|
194 / 7739
|
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
|
15
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
18
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
19
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
20
|
(HPO:0010471)
|
Oligosacchariduria |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
22
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
23
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
24
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
25
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
26
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
27
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
28
|
(HPO:0012471)
|
Thick vermilion border |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
31
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
32
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
33
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
34
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
35
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
36
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
37
|
(HPO:0003461)
|
Increased urinary O-linked sialopeptides |
|
|
|
|
5 / 7739
|
|
38
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
39
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
40
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
41
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|