|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000580)
|
Pigmentary retinopathy |
variable [HPO:skoehler]
|
|
|
|
49 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
rare [HPO:skoehler]
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
5
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
6
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
8
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
|
9
|
(OMIM)
|
No liver disease |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
11
|
(OMIM)
|
Cerebellar dysarthria |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
White matter hyperintensities in various brain regions |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
14
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
15
|
(MedDRA:10064800)
|
Serum pristanic acid increased |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal or increased serum phytanic acid |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increased serum C26-bile-acid intermediates |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|