1
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
2
|
(HPO:0000980)
|
Pallor |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
4
|
(HPO:0001889)
|
Megaloblastic anemia |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
5
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
6
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
7
|
(HPO:0002039)
|
Anorexia |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
10
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
11
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
13
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
14
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
15
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
16
|
(HPO:0002156)
|
Homocystinuria |
|
|
|
|
12 / 7739
|
17
|
(HPO:0002160)
|
Hyperhomocystinemia |
|
|
|
|
10 / 7739
|
18
|
(HPO:0002497)
|
Spastic ataxia |
|
|
|
|
13 / 7739
|
19
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
20
|
(HPO:0003145)
|
Decreased adenosylcobalamin |
|
|
|
|
10 / 7739
|
21
|
(HPO:0003210)
|
Decreased methylmalonyl-CoA mutase activity |
|
|
|
|
7 / 7739
|
22
|
(HPO:0003223)
|
Decreased methylcobalamin |
|
|
|
|
11 / 7739
|
23
|
(HPO:0003524)
|
Decreased methionine synthase activity |
|
|
|
|
9 / 7739
|
24
|
(HPO:0003658)
|
Hypomethioninemia |
|
|
|
|
6 / 7739
|
25
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
26
|
(HPO:0005518)
|
Erythrocyte macrocytosis |
|
|
|
|
13 / 7739
|
27
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
28
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
29
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
30
|
(OMIM)
|
Normal or mildly reduced serum cobalamin |
|
|
|
|
3 / 7739
|
31
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
32
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|