|
1
|
(HPO:0001249)
|
Intellectual disability |
Occasional [HPO:probinson]
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
4
|
(HPO:0003235)
|
Hypermethioninemia |
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
6
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
7
|
(OMIM)
|
Fetid breath due to increased dimethylsulfide |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Neurologic involvement is rare |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Increased serum methionine |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|