|
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:0000467)
|
Neck muscle weakness |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0000819)
|
Diabetes mellitus |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
7
|
(HPO:0001284)
|
Areflexia |
rare [HPO:skoehler]
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
9
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0001638)
|
Cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
192 / 7739
|
|
12
|
(HPO:0002155)
|
Hypertriglyceridemia |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
13
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
14
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
15
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
16
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
17
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
19
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
20
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
21
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
22
|
(HPO:0003546)
|
Exercise intolerance |
|
|
18952067
|
IBIS
|
62 / 7739
|
|
23
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
18952067
|
IBIS
|
105 / 7739
|
|
24
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
25
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0009058)
|
Increased muscle lipid content |
|
|
18952067
|
IBIS
|
6 / 7739
|
|
27
|
(OMIM)
|
No ichthyosis |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Limb weakness, proximal followed by distal |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Limb muscle atrophy |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Difficulty raising arms |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
32
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
33
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
34
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
35
|
(OMIM)
|
Fatty degeneration of muscle seen on MRI |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Vacuoles containing neutral lipids seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
38
|
(OMIM)
|
Accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Lipid vacuoles in leukocytes (Jordan bodies) |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
41
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
42
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
43
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|