Symptom Information: Sort according to HPO 

1
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
5
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
6
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
9
 (HPO:0000639) Nystagmus Frequent [Orphanet] rare [HPO:skoehler] 555 / 7739
10
 (HPO:0000572) Visual loss 272 / 7739
11
 (HPO:0000618) Blindness rare [HPO:skoehler] 124 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0001254) Lethargy 104 / 7739
14
 (HPO:0001288) Gait disturbance 318 / 7739
15
 (HPO:0001508) Failure to thrive 454 / 7739
16
 (HPO:0001889) Megaloblastic anemia 28 / 7739
17
 (HPO:0002059) Cerebral atrophy 171 / 7739
18
 (HPO:0002156) Homocystinuria 12 / 7739
19
 (HPO:0002160) Hyperhomocystinemia 10 / 7739
20
 (HPO:0003223) Decreased methylcobalamin 11 / 7739
21
 (HPO:0003524) Decreased methionine synthase activity 9 / 7739
22
 (HPO:0003658) Hypomethioninemia 6 / 7739
23
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
24
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0003593) Infantile onset 249 / 7739