|
1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
4
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0000575)
|
Scotoma |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
7
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
10
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0002403)
|
Positive Romberg sign |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0002571)
|
Achalasia |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
17
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
|
|
|
|
9 / 7739
|
|
18
|
(HPO:0007737)
|
Bone spicule pigmentation of the retina |
|
|
|
|
26 / 7739
|
|
19
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
20
|
(HPO:0010871)
|
Sensory ataxia |
|
|
|
|
7 / 7739
|
|
21
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
22
|
(OMIM)
|
Ring scotoma (early) |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
24
|
(OMIM)
|
Blindness by third decade |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0002579)
|
Gastrointestinal dysmotility |
|
|
|
|
11 / 7739
|
|
26
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
27
|
(MedDRA:10057332)
|
Loss of proprioception |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Decreased fine touch in the lower extremities |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Mild upper limb ataxia |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Immobility by the third decade |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Absence of sensory nerve conduction velocities |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Atrophic sural nerve |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Loss of large myelinated fibers seen on sural nerve biopsy |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Hyperintense signaling of dorsal aspect of spinal cord seen on MRI (inversion recovery images) |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
37
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|