|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002033)
|
Poor suck |
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
5
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
6
|
(HPO:0007308)
|
Extrapyramidal dyskinesia |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
9
|
(OMIM)
|
Hypertonia at birth |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Developmental delay, profound |
|
|
|
|
6 / 7739
|
|
11
|
(OMIM)
|
Restlessness at birth |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Inability to sit or control head |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
14
|
(OMIM)
|
Cerebellar hypoplasia, particularly of the hemispheres |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Pontine hypoplasia |
|
|
|
|
8 / 7739
|
|
16
|
(OMIM)
|
Cerebellar cortex shows normal layers |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Loss of Purkinje cells |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Diffuse cerebral gliosis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Absence of transverse pontine fibers |
|
|
|
|
1 / 7739
|