|
1
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
Occasional [Orphanet]
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
7
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
10
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
11
|
(HPO:0002816)
|
Genu recurvatum |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
13
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
14
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
15
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
16
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
17
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
18
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
19
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
20
|
(HPO:0000512)
|
Abnormal electroretinogram |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
21
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
24
|
(HPO:0000341)
|
Narrow forehead |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
25
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
26
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
27
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
28
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
29
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
30
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
31
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
32
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
33
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
34
|
(HPO:0004345)
|
Abnormality of ganglioside metabolism |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
36
|
(HPO:0006989)
|
Dysplastic corpus callosum |
|
|
|
|
7 / 7739
|
|
37
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
|
38
|
(HPO:0007281)
|
Developmental stagnation |
|
|
|
|
6 / 7739
|
|
39
|
(HPO:0007893)
|
Progressive retinal degeneration |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0011020)
|
Abnormality of mucopolysaccharide metabolism |
|
|
|
|
17 / 7739
|
|
41
|
(OMIM)
|
Fibrous dysplasia of the cornea |
|
|
|
|
1 / 7739
|
|
42
|
(MedDRA:10000451)
|
Achlorhydria |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
44
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
45
|
(OMIM)
|
Slowly progressive neurologic deterioration |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Never able to walk |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Cerebellar atrophy in older patients |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Skin fibroblasts contain cytoplasmic membrane-bound granular inclusions |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Cytoplasmic lamellar concentric inclusions |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Normal lysosomal hydrolases |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Increased serum gastrin |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Increased urinary phospholipids |
|
|
|
|
1 / 7739
|
|
54
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
55
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
56
|
(HPO:0000159)
|
Abnormality of the lip |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
57
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
|
58
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
59
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|