|
1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
9
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
11
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
12
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
13
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
14
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
17
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0002977)
|
Aplasia/Hypoplasia involving the central nervous system |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
20
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
21
|
(HPO:0012444)
|
Brain atrophy |
|
|
|
|
24 / 7739
|
|
22
|
(OMIM)
|
Initial hypotonia, followed by spasticity |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Loss of very early milestones |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Decerebrate or decorticate posturing late |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Demyelination with white matter disease in internal capsule, external capsule, genu of corpus callosum, subcortical white matter, and posterior fossa |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Spongy degeneration of brain on histology |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Increased N-acetyl-L-aspartic acid (NAA) in urine, CSF, and blood |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Reduced aspartoacylase activity in cultured skin fibroblasts |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
30
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
31
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
32
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|