|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [IBIS]
|
|
24778697
|
IBIS
|
990 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Very frequent [IBIS]
|
|
24778697
|
IBIS
|
214 / 7739
|
|
3
|
(OMIM)
|
Absence of merosin in muscle |
Very frequent [IBIS]
|
|
24778697
|
IBIS
|
1 / 7739
|
|
4
|
(OMIM)
|
Normal intelligence in most cases |
Very frequent [IBIS]
|
|
24223650
|
IBIS
|
2 / 7739
|
|
5
|
(HPO:0011968)
|
Feeding difficulties |
Frequent [IBIS]
|
|
24223650
|
IBIS
|
240 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [IBIS]
|
|
24223650
|
IBIS
|
410 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Occasional [IBIS]
|
|
24223650
|
IBIS
|
1245 / 7739
|
|
8
|
(HPO:0002126)
|
Polymicrogyria |
Occasional [IBIS]
|
|
24223650
|
IBIS
|
64 / 7739
|
|
9
|
(HPO:0002539)
|
Cortical dysplasia |
Occasional [IBIS]
|
|
24223650
|
IBIS
|
19 / 7739
|
|
10
|
(HPO:0001321)
|
Cerebellar hypoplasia |
Occasional [IBIS]
|
|
24223650
|
IBIS
|
114 / 7739
|
|
11
|
(HPO:0012110)
|
Hypoplasia of the pons |
Occasional [IBIS]
|
|
24223650
|
IBIS
|
16 / 7739
|
|
12
|
(OMIM)
|
Ventricular enlargement |
Occasional [IBIS]
|
|
24223650
|
IBIS
|
4 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
24223650
|
IBIS
|
1089 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
24223650
|
IBIS
|
853 / 7739
|
|
15
|
(HPO:0001270)
|
Motor delay |
|
|
24778697
|
IBIS
|
322 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
|
|
24223650
|
IBIS
|
859 / 7739
|
|
17
|
(HPO:0001265)
|
Hyporeflexia |
|
|
24778697
|
IBIS
|
208 / 7739
|
|
18
|
(HPO:0001284)
|
Areflexia |
|
|
24223650
|
IBIS
|
198 / 7739
|
|
19
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
24778697
|
IBIS
|
160 / 7739
|
|
20
|
(HPO:0001371)
|
Flexion contracture |
|
|
24223650
|
IBIS
|
220 / 7739
|
|
21
|
(HPO:0002536)
|
Abnormal cortical gyration |
|
|
10220863
|
IBIS
|
72 / 7739
|
|
22
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
17163796
|
IBIS
|
48 / 7739
|
|
23
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
24778697
|
IBIS
|
88 / 7739
|
|
24
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
24778697
|
IBIS
|
22 / 7739
|
|
25
|
(HPO:0007103)
|
Hypointensity of cerebral white matter on MRI |
|
|
24223650
|
IBIS
|
3 / 7739
|
|
26
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
24223650
|
IBIS
|
153 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
24223650
|
IBIS
|
482 / 7739
|
|
28
|
(OMIM)
|
Absence of laminin alpha-2 chain in muscle |
|
|
24778697
|
IBIS
|
1 / 7739
|
|
29
|
(OMIM)
|
Increased endomysial connective tissue around muscle fibers |
|
|
17163796
|
IBIS
|
1 / 7739
|
|
30
|
(OMIM)
|
Hypotonia, infantile, severe |
|
|
24223650
|
IBIS
|
2 / 7739
|
|
31
|
(OMIM)
|
Endomysial fibrosis |
|
|
24778697
|
IBIS
|
4 / 7739
|
|
32
|
(HPO:0012447)
|
Abnormal myelination |
|
|
17163796
|
IBIS
|
7 / 7739
|
|
33
|
(HPO:0003487)
|
Babinski sign |
|
|
24223650
|
IBIS
|
179 / 7739
|
|
34
|
(OMIM)
|
Negative Babinski |
|
|
24223650
|
IBIS
|
2 / 7739
|
|
35
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
17163796
|
IBIS
|
48 / 7739
|