|
1
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
4
|
(HPO:0004305)
|
Involuntary movements |
|
|
|
|
50 / 7739
|
|
5
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
6
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
8
|
(OMIM)
|
Congenital absence of tears |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Inflammatory liver changes |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Amorphous substance in the cytoplasm |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
14
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
15
|
(OMIM)
|
Epilepsy, multifocal, intractable |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Regression of motor development |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Prominent perivascular spaces with surrounding gliosis in periatrial white matter |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Delayed myelination, mild |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Abnormal urine oligosaccharides (keratan sulfate, heparan sulfate, and chondroitin sulfate) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Normal transferrin isoelectric focusing test |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal N-glycan analysis |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|