|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0002410)
|
Aqueductal stenosis |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
Occasional [Orphanet]
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
7645588
|
IBIS
|
251 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0002516)
|
Increased intracranial pressure |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
10
|
(HPO:0001331)
|
Absent septum pellucidum |
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
17
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
7645588
|
IBIS
|
97 / 7739
|
|
18
|
(HPO:0007016)
|
Corticospinal tract hypoplasia |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0009600)
|
Flexion contracture of thumb |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
21
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
23
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|