Symptom Information: Sort according to HPO 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001298) Encephalopathy 72 / 7739
4
 (HPO:0001336) Myoclonus 115 / 7739
5
 (HPO:0001508) Failure to thrive 454 / 7739
6
 (HPO:0001622) Premature birth 100 / 7739
7
 (HPO:0001903) Anemia 289 / 7739
8
 (HPO:0001942) Metabolic acidosis 81 / 7739
9
 (HPO:0001943) Hypoglycemia 131 / 7739
10
 (HPO:0002151) Increased serum lactate 92 / 7739
11
 (HPO:0003785) Decreased CSF homovanillic acid 7 / 7739
12
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
13
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
14
 (HPO:0011968) Feeding difficulties 240 / 7739
15
 (OMIM) Neonatal epileptic encephalopathy (NEE) 1 / 7739
16
 (OMIM) Burst suppression on EEG 1 / 7739
17
 (OMIM) Partial response to pyridoxine 1 / 7739
18
 (OMIM) Response to pyridoxal phosphate 1 / 7739
19
 (MedDRA:10002944) Apgar score low 1 / 7739
20
 (OMIM) Normal to increased plasma glycine 1 / 7739
21
 (OMIM) Normal to increased plasma threonine 1 / 7739
22
 (OMIM) Decreased plasma arginine 1 / 7739
23
 (OMIM) Increased urine vanillactic acid (VLA) 1 / 7739
24
 (OMIM) Decreased CSF 5-hydroxyindoleacetic acid (5-HIAA) 2 / 7739
25
 (OMIM) Increased CSF 3-methoxytyrosine (3-MT) 1 / 7739
26
 (OMIM) Increased CSF glycine 1 / 7739
27
 (OMIM) Increased CSF threonine 1 / 7739
28
 (OMIM) Increased CSF taurine 1 / 7739
29
 (OMIM) Increased CSF histidine 1 / 7739
30
 (OMIM) Decreased CSF arginine 1 / 7739
31
 (OMIM) Decreased CSF pyridoxal 1 / 7739
32
 (OMIM) Decreased CSF pyridoxal 5-prime-phosphate (PLP) 1 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739