|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0100021)
|
Cerebral palsy |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
5
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
12
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
13
|
(HPO:0002360)
|
Sleep disturbance |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
14
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
15
|
(HPO:0002885)
|
Medulloblastoma |
|
|
|
|
20 / 7739
|
|
16
|
(OMIM)
|
Rhabdoid tumors, malignant (renal or extrarenal) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Atypical teratoid tumors |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10067478)
|
Choroid plexus carcinoma |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
20
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|