|
1
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000204)
|
Cleft upper lip |
rare [HPO:skoehler]
|
|
|
|
193 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
8
|
(HPO:0008499)
|
High-grade hypermetropia |
|
|
|
|
14 / 7739
|
|
9
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
10
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
13
|
(HPO:0011478)
|
True anophthalmia |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0000659)
|
Peters anomaly |
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
17
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
18
|
(HPO:0002084)
|
Encephalocele |
rare [HPO:skoehler]
|
|
|
|
70 / 7739
|
|
19
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
20
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
21
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
22
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
|
26
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
27
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
28
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
29
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
30
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
|
31
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
|
32
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
33
|
(HPO:0009917)
|
Persistent pupillary membrane |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
35
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
36
|
(HPO:0100335)
|
Non-midline cleft lip |
|
|
|
|
12 / 7739
|
|
37
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
38
|
(HPO:0003720)
|
Generalized muscle hypertrophy |
|
|
|
|
8 / 7739
|
|
39
|
(HPO:0100293)
|
Muscle fiber hypertrophy |
|
|
|
|
6 / 7739
|
|
40
|
(OMIM)
|
Muscle biopsy shows decreased glycosylation of alpha-dystroglycan |
|
|
|
|
9 / 7739
|
|
41
|
(OMIM)
|
Flattening of the pons |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Cobblestone lissencephaly, type II |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Smooth, thin cortical mantle (WWS) |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Aplasia of the corpus callosum (WWS) Encephalocele (1 patient, MEB) |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Pachygyria with preferential frontoparietal involvement (MEB) |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Periventricular white matter changes |
|
|
|
|
7 / 7739
|
|
47
|
(OMIM)
|
Diffuse white matter changes (MEB) |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
50
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
51
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|