|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
12682315
|
IBIS
|
853 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
12682315
|
IBIS
|
1245 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
9
|
(HPO:0002273)
|
Tetraparesis |
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0007165)
|
Periventricular gray matter heterotopia |
|
|
12682315
|
IBIS
|
4 / 7739
|
|
12
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
16
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
17
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
18
|
(OMIM)
|
Periventricular nodular heterotopia seen on MRI |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|