|
1
|
(HPO:0000012)
|
Urinary urgency |
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001604)
|
Vocal cord paresis |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0002870)
|
Obstructive sleep apnea |
|
|
|
|
16 / 7739
|
|
12
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0004878)
|
Intercostal muscle weakness |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0007230)
|
Decreased distal sensory nerve action potential |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0009130)
|
Hand muscle atrophy |
|
|
|
|
11 / 7739
|
|
19
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0011349)
|
Abducens palsy |
|
|
|
|
7 / 7739
|
|
21
|
(HPO:0012246)
|
Oculomotor nerve palsy |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0200021)
|
Down-sloping shoulders |
|
|
|
|
18 / 7739
|
|
23
|
(OMIM)
|
Abducens nerve palsy |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
'Sloping' shoulders due to muscle atrophy |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Neurogenic atrophy see on muscle biopsy |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
27
|
(OMIM)
|
Both upper and lower limb involvement |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Wasting of hand muscles often occurs early |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Impaired manual dexterity |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Proximal limb muscles may be involved in severe cases |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Intercostal muscle involvement |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Diaphragm involvement |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Decreased or absent distal sensory nerve action potential (SNAP) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Normal motor nerve conduction velocities |
|
|
|
|
6 / 7739
|
|
35
|
(OMIM)
|
Decreased compound muscle action potentials (CMAP) |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
37
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
38
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|
|
39
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
40
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
|
|
12 / 7739
|