1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
6
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
8
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
9
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
10
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
11
|
(HPO:0002191)
|
Progressive spasticity |
|
|
|
|
12 / 7739
|
12
|
(HPO:0002333)
|
Motor deterioration |
|
|
|
|
7 / 7739
|
13
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
14
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
15
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
16
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
17
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
18
|
(HPO:0007928)
|
Abnormal flash visual evoked potentials |
|
|
|
|
2 / 7739
|
19
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
20
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
21
|
(OMIM)
|
Hyperirritability |
|
|
|
|
2 / 7739
|
22
|
(OMIM)
|
Hypersensitive to stimuli |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Hyperactive deep tendon reflexes in early stage |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Decerebrate posturing |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Hypertonia in early stage |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Hypotonia in later stages |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Diffuse cerebral atrophy on CT and MRI |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
'Globoid multinucleated cells' in brain tissue |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Loss of myelin and oligodendroglia |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Diffuse demyelinating neuropathy |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts |
|
|
|
|
1 / 7739
|