|
1
|
(HPO:0000711)
|
Restlessness |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
4
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
12
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
13
|
(HPO:0002154)
|
Hyperglycinemia |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0003108)
|
Hyperglycinuria |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0100247)
|
Recurrent singultus |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0100710)
|
Impulsivity |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
18
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
19
|
(OMIM)
|
Hyporeflexia to hyperreflexia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Burst suppression pattern on neonatal EEG |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Expressive speech deficit |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Hepatic glycine cleavage defect |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Elevated CSF glycine |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Elevated CSF/plasma glycine ratio |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
27
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|