|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
|
6
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
7
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
8
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
10
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
11
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
17
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
18
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
19
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
20
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
21
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
22
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
23
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
|
24
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
25
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
26
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0002371)
|
Loss of speech |
|
|
|
|
15 / 7739
|
|
28
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
29
|
(OMIM)
|
Blindness by age 2 |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Cognitive decline in older patients |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
32
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
33
|
(OMIM)
|
Cerebral atrophy, progressive |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
MRI shows hypointensity of the thalami early-on |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
MRI shows high signal intensity of the white matter later |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Autofluorescent lipopigment in neurons |
|
|
|
|
11 / 7739
|
|
37
|
(OMIM)
|
Granular material in neurons |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Hyperexcitability |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Granular osmiophilic cytoplasmic deposits (GROD) ultrastructurally in cells |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Decreased activity of PPT1 |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
43
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|