1 |
intellectual disability
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001249
|
2 |
seizure
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001250
|
3 |
spasticity
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001257
|
4 |
failure to thrive
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001508
|
5 |
nystagmus
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0000639
|
6 |
ataxia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001251
|
7 |
dysphagia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002015
|
8 |
muscle weakness
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001324
|
9 |
dyskinesia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0100660
|
10 |
congestive heart failure
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001635
|
11 |
hypertrophic cardiomyopathy
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001639
|
12 |
dilated cardiomyopathy
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001644
|
13 |
ventriculomegaly
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002119
|
14 |
increased serum lactate
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002151
|
15 |
apnea
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002104
|
16 |
mental deterioration
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001268
|
17 |
dystonia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001332
|
18 |
respiratory failure
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002878
|
19 |
increased csf lactate
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002490
|
20 |
respiratory distress
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002098
|
21 |
poor suck
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002033
|
22 |
abnormal brainstem morphology
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002363
|
23 |
infantile muscular hypotonia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0008947
|
24 |
central hypoventilation
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0007110
|
25 |
fluctuations in consciousness
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0007159
|
26 |
global brain atrophy
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002283
|
27 |
limited extraocular movements
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0007941
|
28 |
basal ganglia gliosis
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0006999
|
29 |
abnormal cerebral cortex morphology
30
|
Frequent (33%) |
|
HP:0002538
|
30 |
chorea
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0002072
|
31 |
developmental regression
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0002376
|
32 |
hearing impairment
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000365
|
33 |
global developmental delay
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001263
|
34 |
visual impairment
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000505
|
35 |
optic atrophy
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000648
|
36 |
retinopathy
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000488
|
37 |
anemia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001903
|
38 |
ophthalmoplegia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000602
|
39 |
abnormal renal tubule morphology
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000091
|
40 |
mitral regurgitation
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001653
|
41 |
pulmonic stenosis
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001642
|
42 |
peripheral neuropathy
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0009830
|
43 |
leukodystrophy
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0002415
|
44 |
renal agenesis
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000104
|
45 |
renal tubular acidosis
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001947
|
46 |
renal dysplasia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000110
|
47 |
decreased liver function
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001410
|
48 |
diffuse white matter abnormalities
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0007204
|
49 |
cardiac conduction abnormality
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0031546
|
50 |
abnormality of thalamus morphology
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0010663
|