|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001297)
|
Stroke |
|
|
|
|
44 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0002156)
|
Homocystinuria |
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0002160)
|
Hyperhomocystinemia |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
11
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
12
|
(MedDRA:10070309)
|
Methylenetetrahydrofolate reductase deficiency |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Low to normal plasma methionine |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|