|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
14
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
15
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
16
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
17
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0008615)
|
Adult onset sensorineural hearing impairment |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Proprioceptive loss |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|