|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
17160903
|
IBIS
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
17160903
|
IBIS
|
859 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
7
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
8
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
17160903
|
IBIS
|
37 / 7739
|
|
9
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
rare [HPO:skoehler]
|
|
|
|
48 / 7739
|
|
10
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0003789)
|
Minicore myopathy |
|
|
17160903
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0003798)
|
Nemaline bodies |
|
|
17160903
|
IBIS
|
12 / 7739
|
|
13
|
(OMIM)
|
Muscle weakness, mainly proximal and axial |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(OMIM)
|
Fiber type variation seen on biopsy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Type 1 fiber predominance |
|
|
|
|
9 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows dystrophic features |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Protein aggregates resembling myofibrillar myopathy may be present |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Minicores or core-like regions may be present |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
22
|
(OMIM)
|
Loss of independent ambulation |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|