|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
4
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0000711)
|
Restlessness |
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
8
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
11
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0002384)
|
Focal seizures with impairment of consciousness or awareness |
|
|
|
|
17 / 7739
|
|
15
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
|
16
|
(OMIM)
|
Seizures, onset age 5 to 10 years |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Mental deterioration beginning 2 to 5 years after onset of seizures |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Mental retardation by age 30 years |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Difficulties with equilibrium |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Cerebral atrophy, progressive |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Cerebellar atrophy, progressive |
|
|
|
|
6 / 7739
|
|
22
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
|
23
|
(OMIM)
|
Irritability beginning at puberty |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Inattentiveness |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Intracellular granular material on ultrastructural analysis |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|