1
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
2
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
6
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
7
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
8
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
9
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
10
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
11
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
12
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
13
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
14
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
15
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
16
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
17
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
18
|
(HPO:0001105)
|
Retinal atrophy |
|
|
|
|
10 / 7739
|
19
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
20
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
21
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
22
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
23
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
25
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
26
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
27
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
28
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
29
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
30
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
31
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
32
|
(HPO:0003194)
|
Short nasal bridge |
|
|
|
|
2 / 7739
|
33
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
34
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
35
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
36
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
37
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
38
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
39
|
(HPO:0007738)
|
Uncontrolled eye movements |
|
|
|
|
3 / 7739
|
40
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
41
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
42
|
(HPO:0007770)
|
Hypoplasia of the retina |
|
|
|
|
3 / 7739
|
43
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
44
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
45
|
(HPO:0007731)
|
Chorioretinal dysplasia |
|
|
|
|
16 / 7739
|
46
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
47
|
(HPO:0008012)
|
Congenital myopia |
|
|
|
|
2 / 7739
|
48
|
(HPO:0008045)
|
Enlarged flash visual evoked potentials |
|
|
|
|
1 / 7739
|
49
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
50
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
51
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
52
|
(OMIM)
|
Micrognathia, mild |
|
|
|
|
8 / 7739
|
53
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
54
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
55
|
(OMIM)
|
Chorioectopia |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Choioretinal atrophy |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Pallor of optic discs |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Anterior chamber dysgenesis |
|
|
|
|
2 / 7739
|
59
|
(OMIM)
|
Decreased or absent electroretinogram (ERG) |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Muscle biopsy shows decreased glycosylation of alpha-dystroglycan |
|
|
|
|
9 / 7739
|
61
|
(OMIM)
|
Lack of motor development |
|
|
|
|
3 / 7739
|
62
|
(OMIM)
|
Disorganized brain cytoarchitecture |
|
|
|
|
2 / 7739
|
63
|
(OMIM)
|
White matter changes |
|
|
|
|
7 / 7739
|
64
|
(OMIM)
|
Brainstem concavity |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Flattening of the pons |
|
|
|
|
3 / 7739
|
66
|
(OMIM)
|
Complete or partial absence of the corpus callosum |
|
|
|
|
2 / 7739
|
67
|
(OMIM)
|
Cobblestone lissencephaly, type II |
|
|
|
|
3 / 7739
|
68
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
69
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
70
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
71
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|