|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
8
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
9
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
10
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
12
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
14
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
15
|
(OMIM)
|
Prominent jaw reflex |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
17
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
18
|
(MedDRA:10072731)
|
White matter lesion |
|
|
|
|
7 / 7739
|
|
19
|
(OMIM)
|
Decreased myelin |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Neuroaxonal abnormalities |
|
|
|
|
1 / 7739
|