|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
5
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
6
|
(OMIM)
|
Small renal cysts |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Lipid droplets seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0002448)
|
Progressive encephalopathy |
|
|
|
|
6 / 7739
|
|
9
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
10
|
(OMIM)
|
Abnormal primitive reflexes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Tonus dysregulation |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Cerebral damage |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Thalamic lesions |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Subcortical lesions |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Small cerebellum |
|
|
|
|
6 / 7739
|
|
16
|
(OMIM)
|
Cystic degeneration of the white matter |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Pons damage |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Brainstem damage |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
High pitched cry |
|
|
|
|
5 / 7739
|
|
20
|
(OMIM)
|
Fibroblasts show decreased mitochondrial complex V activity |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased mitochondrial complex V assembly |
|
|
|
|
1 / 7739
|