|
1
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
10
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
11
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
13
|
(HPO:0007068)
|
Inferior vermis hypoplasia |
|
|
|
|
6 / 7739
|
|
14
|
(OMIM)
|
Arm weakness |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
16
|
(OMIM)
|
Hypoplasia of inferior vermis and cerebellum |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Interhemispheric cyst |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
19
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|