|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001262)
|
Somnolence |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
5
|
(HPO:0003166)
|
Increased urinary taurine |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0012556)
|
Hyperbetaalaninemia |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Hyper-beta-alaninemia |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Beta-amino-isobutyric aciduria |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Taurinuria |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Possible defect in beta-alanine-alpha-ketoglutarate transaminase |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|