|
1
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
3
|
(HPO:0000112)
|
Nephropathy |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
5
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0000093)
|
Proteinuria |
Frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
7
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
8
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
9
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
15
|
(HPO:0003080)
|
Hydroxyprolinuria |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0003108)
|
Hyperglycinuria |
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0003137)
|
Prolinuria |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0008358)
|
Hyperprolinemia |
|
|
|
|
5 / 7739
|
|
19
|
(OMIM)
|
Renal abnormalities (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
23
|
(OMIM)
|
Photogenic epilepsy |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
25
|
(OMIM)
|
Increased susceptibility to schizophrenia |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Proline oxidase deficiency |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|