|
1
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
7
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
8
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
10
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
13
|
(HPO:0011451)
|
Congenital microcephaly |
|
|
|
|
6 / 7739
|
|
14
|
(MedDRA:10067601)
|
Dysmyelination |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
16
|
(OMIM)
|
Hypsarrhythmia or severe multifocal epileptic abnormalities with poor background activity on EEG |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decrease plasma serine (fasting) |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Decreased CSF serine |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Decreased PHGDH activity (fibroblasts) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Normal-to-decreased plasma glycine (fasting) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased CSF glycine |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|