|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
16
|
(HPO:0006957)
|
Loss of ability to walk |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0007210)
|
Lower limb amyotrophy |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
19
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
20
|
(OMIM)
|
Cataracts, usually congenital |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Progressive scoliosis |
|
|
|
|
6 / 7739
|
|
22
|
(OMIM)
|
Weakness and wasting of the lower limbs |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Inability to walk independently |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Loss of ability to walk later |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
26
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
27
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
28
|
(OMIM)
|
Truncal titubation |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Leukodystrophy, hypomyelinating |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Cerebral white matter atrophy, progressive |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
32
|
(OMIM)
|
Sural nerve biopsy shows decrease in myelinated fibers |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Loss of myelin |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Abnormal folding of the myelin sheath |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Small onion bulb formation |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
38
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
39
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
40
|
(HPO:0012762)
|
Cerebral white matter atrophy |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0030147)
|
Truncal titubation |
|
|
|
|
1 / 7739
|