|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
4
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
8
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
9
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
13
|
(HPO:0001946)
|
Ketosis |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
15
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
16
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
17
|
(HPO:0002154)
|
Hyperglycinemia |
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
|
20
|
(HPO:0002919)
|
Ketonuria |
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0003145)
|
Decreased adenosylcobalamin |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0003210)
|
Decreased methylmalonyl-CoA mutase activity |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
24
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
25
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
26
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
27
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
28
|
(OMIM)
|
Normal serum cobalamin |
|
|
|
|
7 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|