|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0003080)
|
Hydroxyprolinuria |
|
|
|
|
7 / 7739
|
|
4
|
(HPO:0003108)
|
Hyperglycinuria |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0003137)
|
Prolinuria |
|
|
|
|
4 / 7739
|
|
6
|
(HPO:0008358)
|
Hyperprolinemia |
|
|
|
|
5 / 7739
|
|
7
|
(OMIM)
|
Recurrent seizures |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Delta-1-pyrroline-5-carboxylate (P5C) levels increased in plasma |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
P5C levels increased in urine |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
12
|
(OMIM)
|
Delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|