Symptom Information: Sort according to HPO 

1
 (HPO:0000233) Thin vermilion border rare [HPO:skoehler] 124 / 7739
2
 (HPO:0000325) Triangular face 91 / 7739
3
 (HPO:0000337) Broad forehead rare [HPO:skoehler] 116 / 7739
4
 (HPO:0000343) Long philtrum rare [HPO:skoehler] 262 / 7739
5
 (HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
6
 (HPO:0009904) Prominent ear helix 8 / 7739
7
 (HPO:0000527) Long eyelashes rare [HPO:skoehler] 46 / 7739
8
 (HPO:0011231) Prominent eyelashes 9 / 7739
9
 (HPO:0000592) Blue sclerae rare [HPO:skoehler] 85 / 7739
10
 (HPO:0000637) Long palpebral fissure rare [HPO:skoehler] 21 / 7739
11
 (HPO:0000768) Pectus carinatum rare [HPO:skoehler] 136 / 7739
12
 (HPO:0000917) Superior pectus carinatum 11 / 7739
13
 (HPO:0000926) Platyspondyly 150 / 7739
14
 (HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
15
 (HPO:0001166) Arachnodactyly rare [HPO:skoehler] 62 / 7739
16
 (HPO:0001382) Joint hypermobility rare [HPO:skoehler] 231 / 7739
17
 (HPO:0001388) Joint laxity 117 / 7739
18
 (HPO:0005692) Joint hyperflexibility 20 / 7739
19
 (HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
20
 (HPO:0002194) Delayed gross motor development rare [HPO:skoehler] 37 / 7739
21
 (HPO:0002645) Wormian bones rare [HPO:skoehler] 65 / 7739
22
 (HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 131 / 7739
23
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
24
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
25
 (HPO:0004325) Decreased body weight rare [HPO:skoehler] 492 / 7739
26
 (HPO:0011001) Increased bone mineral density rare [HPO:skoehler] 78 / 7739
27
 (OMIM) No hearing impairment 1 / 7739
28
 (OMIM) Faint blue sclera (in some patients) 1 / 7739
29
 (OMIM) No dentinogenesis imperfecta 4 / 7739
30
 (OMIM) Normal 14 / 7739
31
 (OMIM) Increased anteroposterior and transverse diameters of the thorax (in some patients) 1 / 7739
32
 (OMIM) Deformed clavicles (in some patients) 1 / 7739
33
 (HPO:0001539) Omphalocele 102 / 7739
34
 (MedDRA:10049470) Bone density decreased 3 / 7739
35
 (OMIM) Osteoporosis, borderline (in some patients) 1 / 7739
36
 (OMIM) Prenatal fractures (in some patients) 1 / 7739
37
 (OMIM) Vertebral fractures 2 / 7739
38
 (OMIM) S-curve scoliosis of thoracic and lumbar spine (in some patients) 1 / 7739
39
 (OMIM) Bowing of upper extremity long bones (in some patients) 1 / 7739
40
 (OMIM) Bowing of lower extremity long bones 1 / 7739
41
 (OMIM) Limited movements of the knee joints (in some patients) 1 / 7739
42
 (OMIM) Lack of bone modeling with wide distal metaphyses of femora (in some patients) 1 / 7739
43
 (OMIM) Serpentine thin tibiae and fibulae (in some patients) 1 / 7739
44
 (HPO:0001519) Disproportionate tall stature 39 / 7739
45
 (HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
46
 (HPO:0001324) Muscle weakness 859 / 7739
47
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
48
 (HPO:0010547) Muscle flaccidity 466 / 7739
49
 (OMIM) Normal intelligence 81 / 7739
50
 (OMIM) Normal calcium level 1 / 7739
51
 (OMIM) Normal phosphate level 1 / 7739
52
 (OMIM) Normal to slightly high alkaline phosphatase 1 / 7739
53
 (OMIM) Low procollagen 1 C-peptide (in some patients) 1 / 7739
54
 (OMIM) High deoxypyridinoline/creatinine (in some patients) 1 / 7739
55
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
56
 (HPO:0003083) Dislocated radial head rare [HPO:skoehler] 35 / 7739