1 |
failure to thrive
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001508
|
2 |
global developmental delay
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0001263
|
3 |
delayed speech and language development
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000750
|
4 |
optic atrophy
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000648
|
5 |
delayed gross motor development
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0002194
|
6 |
delayed fine motor development
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0010862
|
7 |
spasticity
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0001257
|
8 |
developmental regression
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002376
|
9 |
poor speech
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0002465
|
10 |
abnormal mitochondrial shape
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0012087
|
11 |
eeg abnormality
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002353
|
12 |
nystagmus
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000639
|
13 |
cataract
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000518
|
14 |
microcephaly
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000252
|
15 |
blindness
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000618
|
16 |
ambiguous genitalia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000062
|
17 |
premature birth
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001622
|
18 |
gait ataxia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002066
|
19 |
hypoplasia of the corpus callosum
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002079
|
20 |
cerebellar atrophy
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001272
|
21 |
cerebellar vermis hypoplasia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0001320
|
22 |
muscular hypotonia of the trunk
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0008936
|
23 |
preeclampsia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0100602
|
24 |
cerebral white matter hypoplasia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0012430
|
25 |
clitoral hypertrophy
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0008665
|
26 |
small basal ganglia
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0012697
|
27 |
delayed myelination
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0012448
|
28 |
diffuse cerebral atrophy
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0002506
|
29 |
central scotoma
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0000603
|
30 |
hypoplasia of the frontal lobes
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0007333
|
31 |
periventricular white matter hypodensities
58
31
|
occasional (7.5%) |
Occasional (29-5%) |
HP:0012794
|
32 |
seizure
31
|
occasional (7.5%) |
|
HP:0001250
|
33 |
seizures
58
|
|
Occasional (29-5%) |
|
34 |
ataxia
58
|
|
Frequent (79-30%) |
|
35 |
muscular hypotonia
58
|
|
Frequent (79-30%) |
|
36 |
visual impairment
58
|
|
Frequent (79-30%) |
|
37 |
hypertonia
58
|
|
Occasional (29-5%) |
|
38 |
abnormality of movement
58
|
|
Occasional (29-5%) |
|
39 |
abnormality of the basal ganglia
58
|
|
Occasional (29-5%) |
|
40 |
abnormal corpus callosum morphology
58
|
|
Occasional (29-5%) |
|