|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
4
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
5
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
6
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
7
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
8
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
9
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
10
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0002324)
|
Hydranencephaly |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
13
|
(OMIM)
|
Glomeruloid vascular proliferation in the retina |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Fetal akinesia deformation sequence |
|
|
|
|
1 / 7739
|
|
15
|
(MedDRA:10053652)
|
Limb deformity |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
17
|
(HPO:0006882)
|
Severe hydrocephalus |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
19
|
(OMIM)
|
Glomeruloid vascular proliferation in brain and spinal cord |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Endothelial intracytoplasmic globular inclusions |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0003869)
|
Humeral cortical thinning |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Ischemic necrotic lesions |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Calcifications in white matter, basal ganglia, brainstem, cerebellum, and spinal cord |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Prenatal diagnosis by ultrasound |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|