|
1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
6
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
7
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
|
|
16 / 7739
|
|
8
|
(OMIM)
|
Recurrent ear infections |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Oromotor dysfunction |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
13
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
14
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
15
|
(OMIM)
|
Disordered myelination |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Deficiency of coagulation factors |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|