|
1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
5
|
(HPO:0002357)
|
Dysphasia |
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0002383)
|
Encephalitis |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
9
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
11
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
14
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
15
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
17
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
18
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
19
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
20
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
22
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
23
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
24
|
(HPO:0007258)
|
Severe demyelination of the white matter |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
|
|
14 / 7739
|
|
26
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
27
|
(OMIM)
|
Choreodystonia of the upper limbs |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
29
|
(OMIM)
|
MRI shows subcortical leukoencephalopathy with cavitation |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Cerebellar atrophy in most cases |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Neuropathologic examination shows extensive spongiosis and gliosis |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Cystic cavitation of the white matter |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Increased L-2-hydroxyglutaric acid in urine, serum, and CSF |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Increased lysine in serum and CSF |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
36
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
38
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
39
|
(HPO:0040144)
|
L-2-hydroxyglutaric aciduria |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0040147)
|
L-2-hydroxyglutaric acidemia |
|
|
|
|
1 / 7739
|