|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
7
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
8
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
11
|
(OMIM)
|
Pallor of the optic disks (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Spasticity, lower limbs greater than upper limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Independent walking never achieved |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
White matter lesions in the supratentorial white matter, brainstem, cerebellum, and spinal cord |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
17
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|