|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
9
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
11
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
13
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
14
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
15
|
(HPO:0007110)
|
Central hypoventilation |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
17
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
18
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
19
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
20
|
(OMIM)
|
Encephalopathy, severe, neonatal |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
22
|
(OMIM)
|
Hyperextension of the limbs |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Limb rigidity |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Dyskinetic movements |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Stereotypical movements |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
27
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|