|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
5
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
11
|
(OMIM)
|
Cupped optic discs |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Poor visual fixation |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
16
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
17
|
(OMIM)
|
No developmental progress |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Little spontaneous movement |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Brain MRI shows abnormal gyral pattern in frontal lobes |
|
|
|
|
1 / 7739
|
|
20
|
(MedDRA:10067601)
|
Dysmyelination |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Increased serum and CSF lactate |
|
|
|
|
7 / 7739
|
|
22
|
(OMIM)
|
Fibroblasts show decreased peroxisomes arranged in rows |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Fibroblasts show elongated, tangled, tubular mitochondria |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Defect in mitochondrial and peroxisomal fission |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
27
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|