|
1
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
12
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
13
|
(OMIM)
|
Congenital suprabulbar paresis |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Orbicularis oris muscle weakness |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Tongue and soft palate weakness |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|