|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000512)
|
Abnormal electroretinogram |
rare [HPO:skoehler]
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000546)
|
Retinal degeneration |
rare [HPO:skoehler]
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
|
10
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
12
|
(HPO:0002375)
|
Hypokinesia |
|
|
|
|
25 / 7739
|
|
13
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
14
|
(HPO:0012448)
|
Delayed myelination |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|