|
1
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
24954637
|
IBIS
|
278 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
4
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
24954637
|
IBIS
|
318 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
7
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
8
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0002410)
|
Aqueductal stenosis |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
|
11
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
12
|
(HPO:0002315)
|
Headache |
Very frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
13
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
14
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
24954637
|
IBIS
|
103 / 7739
|
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
16
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
24954637
|
IBIS
|
142 / 7739
|
|
17
|
(HPO:0001181)
|
Adducted thumb |
|
|
24954637
|
IBIS
|
31 / 7739
|
|
18
|
(HPO:0002362)
|
Shuffling gait |
|
|
24954637
|
IBIS
|
13 / 7739
|
|
19
|
(HPO:0002381)
|
Aphasia |
|
|
24954637
|
IBIS
|
27 / 7739
|
|
20
|
(HPO:0001249)
|
Intellectual disability |
|
|
24954637
|
IBIS
|
1089 / 7739
|