|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
9
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
15
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
16
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
17
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
|
19
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
20
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
21
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
22
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|
|
23
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
24
|
(OMIM)
|
Large feet |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0002448)
|
Progressive encephalopathy |
|
|
|
|
6 / 7739
|
|
26
|
(OMIM)
|
Delayed psychomotor development, profound |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Appendicular hypertonia |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Jitteriness |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Burst suppression pattern seen on EEG |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Multiple independent spike foci |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Brain imaging shows cortical atrophy |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Pontine hypoplasia |
|
|
|
|
8 / 7739
|
|
33
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
|
34
|
(OMIM)
|
Decreased asparagine levels (in some patients) |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
37
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
38
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|
|
39
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|