|
1
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
7
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002186)
|
Apraxia |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0002367)
|
Visual hallucinations |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0007334)
|
Bilateral convulsive seizures |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0011165)
|
Visual auras |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Simple partial seizures with secondary generalization |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
19
|
(OMIM)
|
Disorganized EEG |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Intracellular PAS-positive polyglucosan inclusion bodies ('Lafora' bodies) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Intracellular PAS-positive polyglucosan inclusion bodies ('Lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin) |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
24
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|