|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
4
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
7
|
(HPO:0012277)
|
Hypoglycinemia |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0012279)
|
Hyposerinemia |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
10
|
(OMIM)
|
Jerking movements |
|
|
|
|
1 / 7739
|
|
11
|
(MedDRA:10036437)
|
Posturing |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
13
|
(OMIM)
|
Brain imaging shows generalized atrophy |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Decrease plasma serine (fasting) |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Decreased plasma glycine |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Decreased CSF serine |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Decreased CSF glycine |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|