|
1
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0002072)
|
Chorea |
rare [HPO:skoehler]
|
|
|
|
53 / 7739
|
|
6
|
(HPO:0002156)
|
Homocystinuria |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0002305)
|
Athetosis |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
9
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
12
|
(OMIM)
|
Severely delayed psychomotor development |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
15
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Homocysteinemia |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
20
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
21
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|