|
1
|
(HPO:0001332)
|
Dystonia |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
4
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
5
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
10
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
11
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
12
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
14
|
(HPO:0002487)
|
Hyperkinesis |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
18
|
(HPO:0004305)
|
Involuntary movements |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
19
|
(HPO:0004343)
|
Abnormality of glycosphingolipid metabolism |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
21
|
(HPO:0011169)
|
Generalized clonic seizures |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
23
|
(MedDRA:10028975)
|
Neonatal respiratory failure |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Hyperkinetic movements |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Clonic seizures |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Exaggerated Moro reflex |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
29
|
(OMIM)
|
Hypo- and demyelination of the brain |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Periventricular white matter changes |
|
|
|
|
7 / 7739
|
|
31
|
(OMIM)
|
Fibrillary astrocytes |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Multiple tissue biopsies show lysosomal storage disease |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Deficiency of saposins A, B, C, and D |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Increased urinary glycosphingolipids, particularly globotriaosylceramide |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
38
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|