1
|
(HPO:0001025)
|
Urticaria |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
3
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
4
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
5
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
7
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
9
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
10
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
11
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
12
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
13
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
14
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
15
|
(HPO:0002080)
|
Intention tremor |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
17
|
(HPO:0002380)
|
Fasciculations |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
18
|
(HPO:0003011)
|
Abnormality of the musculature |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
19
|
(OMIM)
|
Erythrokeratodermia |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Papulosquamous erythematous plaques |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Increased granular cell layer with vacuolization and clumping of keratohyaline granules |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Papillomatosis |
|
|
|
|
4 / 7739
|
23
|
(MedDRA:10057660)
|
Spinocerebellar ataxia |
|
|
|
|
4 / 7739
|
24
|
(OMIM)
|
Mild spasticity |
|
|
|
|
3 / 7739
|
25
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
26
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
28
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|