|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
8
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
|
|
28 / 7739
|
|
10
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
11
|
(HPO:0002156)
|
Homocystinuria |
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0002160)
|
Hyperhomocystinemia |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0002497)
|
Spastic ataxia |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
|
15
|
(HPO:0003145)
|
Decreased adenosylcobalamin |
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0003210)
|
Decreased methylmalonyl-CoA mutase activity |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0003223)
|
Decreased methylcobalamin |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0003524)
|
Decreased methionine synthase activity |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0003658)
|
Hypomethioninemia |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0005518)
|
Erythrocyte macrocytosis |
|
|
|
|
13 / 7739
|
|
21
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
22
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
23
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
24
|
(OMIM)
|
Normal or mildly reduced serum cobalamin |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|