|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
4
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
8
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
9
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
14
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
18
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
19
|
(HPO:0000512)
|
Abnormal electroretinogram |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
20
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
21
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
22
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
23
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
24
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
25
|
(HPO:0000547)
|
Tapetoretinal degeneration |
|
|
|
|
11 / 7739
|
|
26
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
27
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
28
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
29
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
30
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
31
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
32
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
33
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
34
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
35
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
36
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
37
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
38
|
(HPO:0006555)
|
Diffuse hepatic steatosis |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
40
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
41
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
|
42
|
(HPO:0008763)
|
No social interaction |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
44
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
45
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
|
46
|
(OMIM)
|
Absence of flash-evoked visual responses (VER) |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Hepatomegaly, mild |
|
|
|
|
8 / 7739
|
|
48
|
(OMIM)
|
Liver biopsy shows normal numbers of enlarged peroxisomes |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
EEG shows epileptiform discharges |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Neurologic regression after age 2 years |
|
|
|
|
1 / 7739
|
|
51
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
52
|
(OMIM)
|
Brain imaging shows white-matter hypodensities and demyelination |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Stereotypical movements |
|
|
|
|
2 / 7739
|
|
54
|
(OMIM)
|
Increased plasma levels of very long-chain fatty acids (VLCFA) |
|
|
|
|
2 / 7739
|
|
55
|
(OMIM)
|
Decreased or absent peroxisome acyl-CoA oxidase activity and protein |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Normal serum plasmalogen |
|
|
|
|
2 / 7739
|
|
57
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
58
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
59
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
60
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
61
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
62
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
63
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
64
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
65
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
66
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|