|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
9
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0008167)
|
Very long chain fatty acid accumulation |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|