1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
2
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
3
|
(HPO:0100295)
|
Muscle fiber atrophy |
|
|
|
|
22 / 7739
|
4
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
5
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
6
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
7
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
8
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
11
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
12
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
13
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
14
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
15
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
16
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
17
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
18
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
19
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
20
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
22
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
23
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
24
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
25
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
26
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
27
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
28
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
29
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
30
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
31
|
(HPO:0010729)
|
Cherry red spot of the macula |
|
|
|
|
10 / 7739
|
32
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
33
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
34
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
35
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
36
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
37
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
38
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
39
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
40
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
41
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
42
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
43
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
44
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
45
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
46
|
(HPO:0000282)
|
Facial edema |
|
|
|
|
5 / 7739
|
47
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
48
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
49
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
50
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
51
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
52
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
53
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
54
|
(HPO:0001350)
|
Slurred speech |
|
|
|
|
16 / 7739
|
55
|
(HPO:0001541)
|
Ascites |
|
|
|
|
94 / 7739
|
56
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
57
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
58
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
59
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
|
|
63 / 7739
|
60
|
(HPO:0001922)
|
Vacuolated lymphocytes |
|
|
|
|
13 / 7739
|
61
|
(HPO:0002011)
|
Morphological abnormality of the central nervous system |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
62
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
63
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
64
|
(HPO:0003461)
|
Increased urinary O-linked sialopeptides |
|
|
|
|
5 / 7739
|
65
|
(HPO:0004333)
|
Bone-marrow foam cells |
|
|
|
|
11 / 7739
|
66
|
(HPO:0010655)
|
Epiphyseal stippling |
|
|
|
|
32 / 7739
|
67
|
(HPO:0012061)
|
Urinary excretion of sialylated oligosaccharides |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Neonatal ascites (type II, congenital) |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Periosteal cloaking |
|
|
|
|
3 / 7739
|
70
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
71
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
72
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
73
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
74
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
75
|
(OMIM)
|
Still birth |
|
|
|
|
1 / 7739
|
76
|
(OMIM)
|
Increased urinary sialylglycopeptides |
|
|
|
|
1 / 7739
|
77
|
(OMIM)
|
Neuraminidase deficiency |
|
|
|
|
2 / 7739
|
78
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
79
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
80
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
81
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
82
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|