|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0007514)
|
Edema of the dorsum of hands |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0012098)
|
Edema of the dorsum of feet |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
11
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
12
|
(OMIM)
|
Alpha-ketoadipicaciduria |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Neonatal collodion skin |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
16
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
|
|
40 / 7739
|