|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
3
|
(HPO:0000523)
|
Subcapsular cataract |
|
|
|
|
12 / 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:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
10
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
13
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
14
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
16
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
18
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
19
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
|
20
|
(OMIM)
|
Distal muscle atrophy due to neurologic disease |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
22
|
(OMIM)
|
Demyelinating neuropathy |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Normal serum phytanic and pristanic acid |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
26
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|
|
27
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
28
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|