|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
frequent [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0002476)
|
Primitive reflex |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
15
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
16
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
17
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
18
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
19
|
(OMIM)
|
Respiratory distress at birth |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Dystrophic changes seen on muscle biopsy |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Reduced O-mannosyl glycans on alpha-dystroglycan |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
23
|
(OMIM)
|
Absence of spontaneous movements |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Loss of cerebral white matter (in 1 of 3 patients) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Increased serum transaminases |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Abnormal N-glycosylation of transferrin |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Fibroblasts accumulate Dol-PP-GlcNAc2Man5 |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
30
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|