|
1
|
(HPO:0001321)
|
Cerebellar hypoplasia |
Very frequent [IBIS]
|
|
20635367
|
IBIS
|
114 / 7739
|
|
2
|
(HPO:0000189)
|
Narrow palate |
|
|
20635367
|
IBIS
|
45 / 7739
|
|
3
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
20635367
|
IBIS
|
121 / 7739
|
|
4
|
(HPO:0000490)
|
Deeply set eye |
|
|
20635367
|
IBIS
|
131 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
20635367
|
IBIS
|
1245 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
20635367
|
IBIS
|
853 / 7739
|
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
20635367
|
IBIS
|
197 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
|
|
20635367
|
IBIS
|
454 / 7739
|
|
9
|
(HPO:0002033)
|
Poor suck |
|
|
20635367
|
IBIS
|
37 / 7739
|
|
10
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
20635367
|
IBIS
|
171 / 7739
|
|
11
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
20635367
|
IBIS
|
56 / 7739
|
|
12
|
(HPO:0002104)
|
Apnea |
|
|
20635367
|
IBIS
|
106 / 7739
|
|
13
|
(HPO:0002151)
|
Increased serum lactate |
|
|
20635367
|
IBIS
|
92 / 7739
|
|
14
|
(HPO:0002421)
|
Poor head control |
|
|
20635367
|
IBIS
|
23 / 7739
|
|
15
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
20635367
|
IBIS
|
28 / 7739
|
|
16
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
20635367
|
IBIS
|
15 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
20635367
|
IBIS
|
990 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
20635367
|
IBIS
|
482 / 7739
|
|
19
|
(OMIM)
|
Edematous hands and feet (1 patient) |
|
|
20635367
|
IBIS
|
1 / 7739
|
|
20
|
(OMIM)
|
Limb spasticity |
|
|
20635367
|
IBIS
|
3 / 7739
|
|
21
|
(HPO:0003676)
|
Progressive disorder |
|
|
20635367
|
IBIS
|
148 / 7739
|
|
22
|
(HPO:0003819)
|
Death in childhood |
|
|
20635367
|
IBIS
|
42 / 7739
|
|
23
|
(HPO:0200125)
|
Mitochondrial respiratory chain defects |
|
|
20635367
|
IBIS
|
6 / 7739
|
|
24
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
20635367
|
IBIS
|
35 / 7739
|
|
25
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
20635367
|
IBIS
|
22 / 7739
|
|
26
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
20635367
|
IBIS
|
31 / 7739
|
|
27
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
20635367
|
IBIS
|
34 / 7739
|
|
28
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
20635367
|
IBIS
|
153 / 7739
|
|
29
|
(HPO:0011470)
|
Nasogastric tube feeding in infancy |
|
|
20635367
|
IBIS
|
1 / 7739
|
|
30
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
20635367
|
IBIS
|
169 / 7739
|
|
31
|
(HPO:0001257)
|
Spasticity |
|
|
20635367
|
IBIS
|
251 / 7739
|
|
32
|
(HPO:0001348)
|
Brisk reflexes |
|
|
20635367
|
IBIS
|
15 / 7739
|
|
33
|
(HPO:0000969)
|
Edema |
|
|
20635367
|
IBIS
|
117 / 7739
|
|
34
|
(HPO:0000252)
|
Microcephaly |
|
|
20635367
|
IBIS
|
832 / 7739
|
|
35
|
(HPO:0001522)
|
Death in infancy |
|
|
20635367
|
IBIS
|
275 / 7739
|
|
36
|
(HPO:0007366)
|
Atrophy/Degeneration affecting the brainstem |
|
|
20635367
|
IBIS
|
4 / 7739
|
|
37
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
20635367
|
IBIS
|
57 / 7739
|