|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
12
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
14
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
15
|
(OMIM)
|
Limb spasticity |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Subcortical band or laminar heterotopia (in female carriers) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Malformation of the insula |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
19
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
20
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
21
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
22
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
23
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|