|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
7
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
9
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
10
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0000659)
|
Peters anomaly |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
13
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
14
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
15
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
16
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
17
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
19
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
20
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
21
|
(HPO:0002084)
|
Encephalocele |
|
|
|
|
70 / 7739
|
|
22
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
23
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
24
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
25
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
26
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
27
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0007968)
|
Remnants of the hyaloid vascular system |
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
|
30
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
31
|
(OMIM)
|
Arrested retinal development |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Visceral malformations |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Limb deformation (rare) |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
35
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
36
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
37
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
38
|
(OMIM)
|
Disruption in the basal lamina seen on skeletal muscle biopsy |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
41
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
42
|
(HPO:0003869)
|
Humeral cortical thinning |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Subcortical heterotopia |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Brain vascular anomalies (rare) |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|