|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
7
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0010837)
|
Decreased serum ceruloplasmin |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 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)
|
Inability to sit or walk independently |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
16
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
17
|
(OMIM)
|
Wide subarachnoid spaces |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased serum copper |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
21
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
22
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|