|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
4
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0002486)
|
Myotonia |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
9
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
10
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
11
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
12
|
(HPO:0010729)
|
Cherry red spot of the macula |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
14
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
15
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
16
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
17
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
20
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
21
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
22
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
|
|
26 / 7739
|
|
23
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
24
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
25
|
(HPO:0000741)
|
Apathy |
|
|
|
|
42 / 7739
|
|
26
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
27
|
(HPO:0002835)
|
Aspiration |
|
|
|
|
11 / 7739
|
|
28
|
(HPO:0003495)
|
GM2-ganglioside accumulation |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Macular pallor with prominence of fovea centralis (cherry red spot) |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
31
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
32
|
(OMIM)
|
Hypertonia late |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Ballooned neurons |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Hexosaminidase A deficiency |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
36
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|