|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
5
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
6
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
7
|
(OMIM)
|
Myoclonic seizures, intractable |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
EEG shows burst suppression |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Evolution to severe encephalopathy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|