1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
2
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
4
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
6
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
7
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
8
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
10
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
11
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
12
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
13
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
14
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
15
|
(HPO:0002186)
|
Apraxia |
|
|
|
|
22 / 7739
|
16
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
17
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
19
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
20
|
(HPO:0003763)
|
Bruxism |
|
|
|
|
7 / 7739
|
21
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
22
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
23
|
(HPO:0100660)
|
Dyskinesia |
|
|
|
|
19 / 7739
|
24
|
(HPO:0100703)
|
Tongue thrusting |
|
|
|
|
4 / 7739
|
25
|
(OMIM)
|
Slow postnatal growth |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Abnormal breathing pattern |
|
|
|
|
8 / 7739
|
27
|
(OMIM)
|
Genu valgu |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Neonatal irresponsiveness |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Neonatal irritability |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Developmental regression before age 6 months |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Jerky limb movements |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Stereotypic movements |
|
|
|
|
3 / 7739
|
33
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
34
|
(HPO:0000735)
|
Impaired social interactions |
|
|
|
|
20 / 7739
|
35
|
(OMIM)
|
Abnormal sleep pattern |
|
|
|
|
2 / 7739
|
36
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
37
|
(OMIM)
|
EEG shows with a multifocal pattern with spikes and sharp waves |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
39
|
(OMIM)
|
Reduced white matter volume |
|
|
|
|
3 / 7739
|
40
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|