|
1
|
(HPO:0007441)
|
Hyperpigmented/hypopigmented macules |
Very frequent [IBIS]
|
|
25382520
|
IBIS
|
6 / 7739
|
|
2
|
(HPO:0000473)
|
Torticollis |
Frequent [Orphanet]
|
|
16817193
|
IBIS
|
42 / 7739
|
|
3
|
(HPO:0000643)
|
Blepharospasm |
Frequent [Orphanet]
|
|
X
|
|
20 / 7739
|
|
4
|
(HPO:0001332)
|
Dystonia |
Frequent [Orphanet]
|
|
25382520
|
IBIS
|
197 / 7739
|
|
5
|
(HPO:0002356)
|
Writer's cramp |
Frequent [Orphanet]
|
|
X
|
|
16 / 7739
|
|
6
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
X
|
|
55 / 7739
|
|
7
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
25382520
|
IBIS
|
80 / 7739
|
|
8
|
(HPO:0005590)
|
Spotty hypopigmentation |
Very frequent [Orphanet]
hallmark [HPO]
|
|
25382520
|
IBIS
|
10 / 7739
|
|
9
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
25382520
|
IBIS
|
72 / 7739
|
|
10
|
(HPO:0007427)
|
Reticulated skin pigmentation |
Very frequent [Orphanet]
|
|
25382520
|
IBIS
|
7 / 7739
|
|
11
|
(HPO:0007588)
|
Reticular hyperpigmentation |
Very frequent [Orphanet]
|
|
25382520
|
IBIS
|
9 / 7739
|
|
12
|
(HPO:0001034)
|
Hypermelanotic macule |
Very frequent [Orphanet]
|
|
25382520
|
IBIS
|
22 / 7739
|
|
13
|
(HPO:0005585)
|
Spotty hyperpigmentation |
|
|
25382520
|
IBIS
|
8 / 7739
|
|
14
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
25382520
|
IBIS
|
197 / 7739
|
|
15
|
(HPO:0000719)
|
Inappropriate behavior |
|
|
25382520
|
IBIS
|
5 / 7739
|
|
16
|
(HPO:0007587)
|
Numerous pigmented freckles |
|
|
25382520
|
IBIS
|
22 / 7739
|
|
17
|
(HPO:0001288)
|
Gait disturbance |
|
|
25382520
|
IBIS
|
318 / 7739
|
|
18
|
(HPO:0001276)
|
Hypertonia |
|
|
25382520
|
IBIS
|
317 / 7739
|
|
19
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
25382520
|
IBIS
|
21 / 7739
|
|
20
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
25382520
|
IBIS
|
37 / 7739
|
|
21
|
(HPO:0002376)
|
Developmental regression |
|
|
25382520
|
IBIS
|
74 / 7739
|
|
22
|
(HPO:0001250)
|
Seizures |
|
|
25382520
|
IBIS
|
1245 / 7739
|
|
23
|
(HPO:0000729)
|
Autistic behavior |
|
|
25382520
|
IBIS
|
27 / 7739
|
|
24
|
(HPO:0000716)
|
Depression |
|
|
25382520
|
IBIS
|
99 / 7739
|
|
25
|
(HPO:0001304)
|
Torsion dystonia |
|
|
7911621
|
IBIS
|
13 / 7739
|
|
26
|
(HPO:0002514)
|
Cerebral calcification |
|
|
16817193
|
IBIS
|
89 / 7739
|
|
27
|
(HPO:0001268)
|
Mental deterioration |
|
|
16817193
|
IBIS
|
88 / 7739
|
|
28
|
(HPO:0002571)
|
Achalasia |
|
|
22594859
|
IBIS
|
19 / 7739
|
|
29
|
(HPO:0002533)
|
Abnormal posturing |
|
|
19584476
|
IBIS
|
6 / 7739
|
|
30
|
(HPO:0000508)
|
Ptosis |
|
|
19584476
|
IBIS
|
459 / 7739
|
|
31
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
19584476
|
IBIS
|
169 / 7739
|
|
32
|
(HPO:0000343)
|
Long philtrum |
|
|
19584476
|
IBIS
|
262 / 7739
|
|
33
|
(HPO:0000737)
|
Irritability |
|
|
16817193
|
IBIS
|
93 / 7739
|