|
1
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
4
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
10
|
(HPO:0007021)
|
Pain insensitivity |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
11
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
14
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
16
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
17
|
(OMIM)
|
Normal values for very-long-chain fatty acids |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
20
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
21
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|