|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
6
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
7
|
(HPO:0008167)
|
Very long chain fatty acid accumulation |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0010571)
|
Elevated levels of phytanic acid |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
14
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
15
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
17
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
18
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
19
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
20
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|