|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
10
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
12
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
13
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
14
|
(OMIM)
|
Retinal dysfunction |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Increased muscle tone at birth |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hypoglycosylation of alpha-dystroglycan seen on muscle biopsy |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
18
|
(OMIM)
|
Inability to walk unsupported |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Pontine hypoplasia |
|
|
|
|
8 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
22
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|