|
1
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
rare [HPO:skoehler]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
10
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0003208)
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
8 / 7739
|
|
12
|
(OMIM)
|
Optic atrophy, mild (in 1 patient) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Secondary generalization |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Initial normal development |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Neurologic regression following seizure onset |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Limited expressive language |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Loss of motor function |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
EEG shows slowed dysrhythmia and multifocal discharges |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
20
|
(OMIM)
|
Granular osmiophilic cytoplasmic deposits (GROD) ultrastructurally in cells |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
'Rectilinear profiles' ultrastructurally in cells |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|