|
1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001608)
|
Abnormality of the voice |
|
|
|
|
126 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
7
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0006960)
|
Choroid plexus calcification |
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
11
|
(OMIM)
|
Failure of choroid plexus to take up radiolabeled (99m) Tc-pertechnetate |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
'Lalling' speech |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|