1 |
abnormal enzyme/coenzyme activity
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0012379
|
2 |
increased csf protein
58
30
|
Hallmark (90%) |
Very frequent (99-80%)
|
HP:0002922
|
3 |
developmental regression
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002376
|
4 |
abnormality of visual evoked potentials
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0000649
|
5 |
decreased nerve conduction velocity
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0000762
|
6 |
motor delay
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001270
|
7 |
mental deterioration
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001268
|
8 |
peripheral neuropathy
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0009830
|
9 |
difficulty walking
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002355
|
10 |
spastic paraparesis
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002313
|
11 |
spastic diplegia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0001264
|
12 |
visual loss
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0000572
|
13 |
abnormal cns myelination
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0011400
|
14 |
clumsiness
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002312
|
15 |
frequent falls
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002359
|
16 |
loss of speech
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0002371
|
17 |
esotropia
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0000565
|
18 |
eeg with persistent abnormal rhythmic activity
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0010846
|
19 |
prolonged brainstem auditory evoked potentials
58
30
|
Frequent (33%) |
Frequent (79-30%)
|
HP:0004466
|
20 |
loss of ambulation
30
|
Frequent (33%) |
|
HP:0002505
|
21 |
ataxia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001251
|
22 |
dysarthria
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001260
|
23 |
tremor
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001337
|
24 |
tetraplegia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0002445
|
25 |
blindness
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0000618
|
26 |
slurred speech
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001350
|
27 |
attention deficit hyperactivity disorder
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0007018
|
28 |
pes cavus
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0001761
|
29 |
feeding difficulties
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0011968
|
30 |
hemiplegia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0002301
|
31 |
upper limb muscle weakness
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0003484
|
32 |
impaired tactile sensation
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0010830
|
33 |
neuromuscular dysphagia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0002068
|
34 |
acroparesthesia
58
30
|
Occasional (7.5%) |
Occasional (29-5%)
|
HP:0031006
|
35 |
emotional lability
30
|
Occasional (7.5%) |
|
HP:0000712
|
36 |
febrile seizure (within the age range of 3 months to 6 years)
30
|
Occasional (7.5%) |
|
HP:0002373
|
37 |
axial hypotonia
30
|
Occasional (7.5%) |
|
HP:0008936
|
38 |
irritability
58
30
|
Very rare (1%) |
Very rare (<4-1%)
|
HP:0000737
|
39 |
seizure
58
|
|
Occasional (29-5%)
|
|
40 |
gait disturbance
58
|
|
Frequent (79-30%)
|
|
41 |
visual impairment
58
|
|
Occasional (29-5%)
|
|
42 |
upper motor neuron dysfunction
58
|
|
Frequent (79-30%)
|
|
43 |
progressive inability to walk
58
|
|
Frequent (79-30%)
|
|
44 |
lower limb spasticity
58
|
|
Frequent (79-30%)
|
|
45 |
functional motor deficit
58
|
|
Frequent (79-30%)
|
|
46 |
muscular hypotonia of the trunk
58
|
|
Occasional (29-5%)
|
|
47 |
febrile seizures
58
|
|
Occasional (29-5%)
|
|
48 |
mood changes
58
|
|
Occasional (29-5%)
|
|