|
1
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
3
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
4
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
5
|
(HPO:0002304)
|
Akinesia |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
10
|
(HPO:0007009)
|
Central nervous system degeneration |
|
|
|
|
5 / 7739
|
|
11
|
(OMIM)
|
Primary central nervous system degeneration |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0001989)
|
Fetal akinesia sequence |
|
|
|
|
14 / 7739
|
|
13
|
(OMIM)
|
Cerebral malformation |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Vermis agenesis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Severe arthrogryposis |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Smooth brain |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cystic cerebellum |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Large ventricles |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Bilateral multicystic periventricular lesions extending to the basal ganglia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Severe neuronal loss |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0045028)
|
Type III lissencephaly |
|
|
|
|
1 / 7739
|