|
1
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
3
|
(HPO:0000741)
|
Apathy |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
11
|
(HPO:0002835)
|
Aspiration |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0003470)
|
Paralysis |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0003495)
|
GM2-ganglioside accumulation |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Cherry red macula |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Gray-white area around the retinal fovea |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Hypertonia late |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Both Hexosaminidase-A and B present |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Hex-A activating factor defect |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|