|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
9
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
10
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
12
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
14
|
(HPO:0003121)
|
Limb joint contracture |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
16
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
17
|
(HPO:0002478)
|
Progressive spastic quadriplegia |
|
|
|
|
7 / 7739
|
|
18
|
(OMIM)
|
Chorea, mild (in some) |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Cerebellar atrophy, progressive |
|
|
|
|
6 / 7739
|
|
20
|
(OMIM)
|
Cerebral atrophy, progressive, from anterior to posterior |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased white matter volume |
|
|
|
|
2 / 7739
|