|
1
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
2
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
3
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0003044)
|
Shoulder flexion contracture |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0003184)
|
Decreased hip abduction |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
10
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0003798)
|
Nemaline bodies |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
15
|
(OMIM)
|
Chest wall rigidity |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Pectus carinatum, severe |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Contractures, proximal, progressive (shoulders and hips, present at birth) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Tremors subside over the first 2 to 3 months of life |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Muscle atrophy, progressive |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Muscle biopsy shows nemaline bodies (rods) on Gomori trichrome staining |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Muscle biopsy shows myofibrillar disruption |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Muscle biopsy shows myofiber degeneration |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|