1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
variable [HPO:skoehler]
|
|
|
|
524 / 7739
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
6
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
9
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
10
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
11
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
12
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
14
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
15
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
16
|
(HPO:0002370)
|
Poor coordination |
|
|
|
|
15 / 7739
|
17
|
(HPO:0002497)
|
Spastic ataxia |
|
|
|
|
13 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
19
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
20
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
21
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
22
|
(HPO:0009830)
|
Peripheral neuropathy |
variable [HPO:skoehler]
|
|
|
|
206 / 7739
|
23
|
(HPO:0011448)
|
Ankle clonus |
|
|
|
|
31 / 7739
|
24
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
25
|
(OMIM)
|
Upper limbs affected |
|
|
|
|
1 / 7739
|
26
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
27
|
(OMIM)
|
Abnormal EEG activity during sleep |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Poor vibratory sense |
|
|
|
|
1 / 7739
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
30
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
31
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
32
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|