|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0000572)
|
Visual loss |
rare [HPO:skoehler]
|
|
|
|
272 / 7739
|
|
4
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
7
|
(HPO:0000718)
|
Aggressive behavior |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
8
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
10
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
12
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0001992)
|
Organic aciduria |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0002015)
|
Dysphagia |
rare [HPO:skoehler]
|
|
|
|
301 / 7739
|
|
15
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
16
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0002375)
|
Hypokinesia |
|
|
|
|
25 / 7739
|
|
18
|
(HPO:0002751)
|
Kyphoscoliosis |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
19
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
20
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
21
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
22
|
(OMIM)
|
Absent brainstem auditory-evoked responses |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Absent pupillary reflex |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Sleep hypoventilation (1 patient) |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
26
|
(OMIM)
|
Muscle weakness, proximal, distal, and axial, severe |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
28
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
30
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
31
|
(OMIM)
|
Muscle atrophy, diffuse, severe |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
EMG shows neurogenic changes |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Fibrillations |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Loss of independent ambulation |
|
|
|
|
5 / 7739
|
|
35
|
(OMIM)
|
Inability to hold head up |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Axonal sensorimotor neuropathy |
|
|
|
|
6 / 7739
|
|
37
|
(OMIM)
|
Abnormal acylcarnitine profiles |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
40
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|