|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
3
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
11
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
13
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
14
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0002275)
|
Poor motor coordination |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
17
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
18
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
19
|
(HPO:0005941)
|
Intermittent hyperpnea at rest |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0008335)
|
Renal aminoaciduria |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
22
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
23
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
24
|
(OMIM)
|
Hypotonia, axial, severe |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Inability to sit or hold head up |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Cox-negative fibers seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
28
|
(OMIM)
|
Decreased activity and protein levels of respiratory chain complexes I, II, III, and IV |
|
|
|
|
1 / 7739
|
|
29
|
(MedDRA:10059396)
|
Mitochondrial DNA depletion |
|
|
|
|
5 / 7739
|
|
30
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
31
|
(OMIM)
|
Widening of the ventricles |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Brain MRI shows lesions in the basal ganglia |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Increased lactate in spinal fluid |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
36
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
37
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|