|
1
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000717)
|
Autism |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
7
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
8
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
12
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
14
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0003461)
|
Increased urinary O-linked sialopeptides |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
18
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|
|
19
|
(OMIM)
|
Limb contractures by age 4-5 years |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Normal early development, up to 8 to 15 months of age |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Delayed development, after 8-15 months |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Rapid regression |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
24
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
25
|
(OMIM)
|
Decorticate posturing |
|
|
|
|
2 / 7739
|
|
26
|
(MedDRA:10045555)
|
Unresponsive to stimuli |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
No voluntary movement |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Atrophy of cerebellum, brainstem, cervical spinal cord |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Neuroaxonal dystrophy |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
'Spheroid' inclusions in axons |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Lack of lysosomal inclusions in visceral organs |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Decreased alpha-N-acetylgalactosaminidase protein |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Decreased alpha-N-acetylgalactosaminidase activity (less than 2% of control) |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Increased urinary oligosaccharides |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
36
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|