1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
3
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
4
|
(HPO:0001944)
|
Dehydration |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
5
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
6
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
8
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
9
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
10
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
11
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
14
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
15
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
17
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
19
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
20
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
21
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
22
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
23
|
(HPO:0001946)
|
Ketosis |
|
|
|
|
17 / 7739
|
24
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
25
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
26
|
(HPO:0002154)
|
Hyperglycinemia |
|
|
|
|
12 / 7739
|
27
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
28
|
(HPO:0002919)
|
Ketonuria |
|
|
|
|
18 / 7739
|
29
|
(HPO:0003145)
|
Decreased adenosylcobalamin |
|
|
|
|
10 / 7739
|
30
|
(HPO:0003210)
|
Decreased methylmalonyl-CoA mutase activity |
|
|
|
|
7 / 7739
|
31
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
32
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
33
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|