|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
5
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0002919)
|
Ketonuria |
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
8
|
(OMIM)
|
Self-regulated protein restriction |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Methylmalonic aciduria, mild |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Normal plasma total homocysteine |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Elevated plasma propionylcarnitine |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Normal B12 |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|