1
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
2
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
3
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
4
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
5
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
6
|
(HPO:0002072)
|
Chorea |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
7
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
8
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
9
|
(HPO:0001251)
|
Ataxia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
413 / 7739
|
10
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
327 / 7739
|
11
|
(HPO:0002311)
|
Incoordination |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
12
|
(HPO:0002360)
|
Sleep disturbance |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
13
|
(HPO:0001268)
|
Mental deterioration |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
88 / 7739
|
14
|
(HPO:0002361)
|
Psychomotor deterioration |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
26 / 7739
|
15
|
(HPO:0002376)
|
Developmental regression |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
16
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
17
|
(HPO:0008872)
|
Feeding difficulties in infancy |
Frequent [Orphanet]
|
|
|
|
153 / 7739
|
18
|
(HPO:0005199)
|
Aplasia of the abdominal wall musculature |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
5 / 7739
|
19
|
(HPO:0005247)
|
Hypoplasia of the abdominal wall musculature |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
4 / 7739
|
20
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
21
|
(HPO:0000473)
|
Torticollis |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
22
|
(HPO:0000643)
|
Blepharospasm |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
23
|
(HPO:0001332)
|
Dystonia |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
24
|
(HPO:0002356)
|
Writer's cramp |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
25
|
(Orphanet:43190)
|
[DEL]Motor deficit/trouble |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
26
|
(HPO:0001266)
|
Choreoathetosis |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
27
|
(HPO:0002305)
|
Athetosis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
28
|
(HPO:0009023)
|
Abdominal wall muscle weakness |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
29
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
30
|
(HPO:0002033)
|
Poor suck |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
31
|
(HPO:0002121)
|
Absence seizures |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
32
|
(HPO:0002133)
|
Status epilepticus |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
33
|
(HPO:0011097)
|
Epileptic spasms |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
34
|
(HPO:0011147)
|
Typical absence seizures |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
35
|
(HPO:0002141)
|
Gait imbalance |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
36
|
(HPO:0002321)
|
Vertigo |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
37
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
38
|
(HPO:0000726)
|
Dementia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
39
|
(HPO:0002300)
|
Mutism |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
40
|
(HPO:0002357)
|
Dysphasia |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
41
|
(HPO:0002381)
|
Aphasia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
42
|
(HPO:0010529)
|
Echolalia |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
43
|
(HPO:0000952)
|
Jaundice |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
44
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
45
|
(HPO:0002611)
|
Cholestatic liver disease |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
46
|
(HPO:0012115)
|
Hepatitis |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
47
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [Orphanet]
|
|
|
|
1089 / 7739
|
48
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [Orphanet]
|
|
|
|
853 / 7739
|
49
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
50
|
(HPO:0001328)
|
Specific learning disability |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|