|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
10
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
11
|
(OMIM)
|
Dilated ventricles by air encephalography |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
13
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
14
|
(OMIM)
|
Very low beta-xylosidase in short-term lymphocyte culture |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|