|
1
|
(HPO:0000015)
|
Bladder diverticulum |
rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
|
2
|
(HPO:0000023)
|
Inguinal hernia |
rare [HPO:skoehler]
|
|
|
|
181 / 7739
|
|
3
|
(HPO:0000185)
|
Cleft soft palate |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
hallmark [HPO:skoehler]
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
|
7
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0000978)
|
Bruising susceptibility |
rare [HPO:skoehler]
|
|
|
|
123 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001537)
|
Umbilical hernia |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
|
12
|
(HPO:0001757)
|
High-frequency sensorineural hearing impairment |
|
|
|
|
7 / 7739
|
|
13
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
|
14
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
15
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
16
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
17
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
18
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
19
|
(HPO:0007502)
|
Follicular hyperkeratosis |
|
|
|
|
12 / 7739
|
|
20
|
(OMIM)
|
High-frequency sensorineural hearing loss |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Bluish sclerae in infancy (rare) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Insufficiency of tricuspid valve (in some patients) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Insufficiency of mitral valve (rare) |
|
|
|
|
1 / 7739
|
|
24
|
(MedDRA:10060874)
|
Aortic rupture |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Restrictive ventilation disorder due to severe scoliosis (in some patients) |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
27
|
(OMIM)
|
Hypermobility of large and small joints (Beighton score ranging from 6/9 to 9/9) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Dislocations, recurrent (rare) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Osteopenia, mild to moderate |
|
|
|
|
1 / 7739
|
|
30
|
(MedDRA:10017322)
|
Fractures |
|
|
|
|
18 / 7739
|
|
31
|
(MedDRA:10017076)
|
Fracture |
|
|
|
|
18 / 7739
|
|
32
|
(OMIM)
|
Kyphoscoliosis, progressive |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Hypermobility of large joints |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Hypermobility of small joints |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Plantar softness |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Hypertrophic scarring |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Endoplasmic reticulum cisterns dilated and filled with flocculent material in skin fibroblasts |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Collagen fibrils normal in shape and diameter |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Severe muscle hypotonia at birth |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Poor head control in infancy |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Muscular weakness, improving in infancy (Medical Research Council muscle score of 3 to 4) |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Myopathy, mild to severe |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Increased variation in muscle fiber diameter |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Proliferation of fatty tissue in muscle (in some patients) |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Muscle fiber atrophy, profound (rare) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Walking independently at 2.5 years to 4 years of age |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
48
|
(OMIM)
|
Electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood Normal pyridinoline excretion in urine |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
50
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
|
51
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|