|
1
|
(HPO:0000648)
|
Optic atrophy |
|
|
14988808
|
IBIS
|
238 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
14988808
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
14988808
|
IBIS
|
413 / 7739
|
|
4
|
(HPO:0001257)
|
Spasticity |
|
|
14988808
|
IBIS
|
251 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
14988808
|
IBIS
|
853 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
14988808
|
IBIS
|
328 / 7739
|
|
7
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
14988808
|
IBIS
|
32 / 7739
|
|
8
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
14988808
|
IBIS
|
27 / 7739
|
|
9
|
(HPO:0001271)
|
Polyneuropathy |
|
|
14988808
|
IBIS
|
56 / 7739
|
|
10
|
(HPO:0002376)
|
Developmental regression |
|
|
14988808
|
IBIS
|
74 / 7739
|
|
11
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
14988808
|
IBIS
|
73 / 7739
|