|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002378)
|
Hand tremor |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
7
|
(OMIM)
|
Decreased auditory brainstem responses |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Distal muscle weakness and atrophy, predominantly lower limbs, due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Distal sensory impairment, predominantly lower limbs |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Ankle hyporeflexia |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Hand muscle weakness |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Axonal sensorimotor polyneuropathy |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
14
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
15
|
(HPO:0030237)
|
Hand muscle weakness |
|
|
|
|
4 / 7739
|