Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0000618) Blindness 124 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (HPO:0001933) Subcutaneous hemorrhage Frequent [Orphanet] 50 / 7739
6
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
7
 (HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
8
 (HPO:0000563) Keratoconus 25 / 7739
9
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
10
 (HPO:0000023) Inguinal hernia 181 / 7739
11
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
12
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
13
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
14
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
15
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
16
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
17
 (HPO:0000488) Retinopathy Frequent [Orphanet] 75 / 7739
18
 (HPO:0002647) Aortic dissection Very frequent [Orphanet] 14 / 7739
19
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
20
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
21
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
22
 (HPO:0003010) Prolonged bleeding time Frequent [Orphanet] 88 / 7739
23
 (HPO:0000974) Hyperextensible skin Frequent [Orphanet] 59 / 7739
24
 (HPO:0005294) Arterial dissection Very frequent [Orphanet] 8 / 7739
25
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
26
 (HPO:0001388) Joint laxity 117 / 7739
27
 (HPO:0000015) Bladder diverticulum 15 / 7739
28
 (HPO:0000098) Tall stature 74 / 7739
29
 (HPO:0000286) Epicanthus 371 / 7739
30
 (HPO:0000592) Blue sclerae 85 / 7739
31
 (HPO:0000678) Dental crowding 65 / 7739
32
 (HPO:0000939) Osteoporosis 129 / 7739
33
 (HPO:0000963) Thin skin 96 / 7739
34
 (HPO:0000977) Soft skin 23 / 7739
35
 (HPO:0000978) Bruising susceptibility 123 / 7739
36
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
37
 (HPO:0000993) Molluscoid pseudotumors 8 / 7739
38
 (HPO:0001166) Arachnodactyly 62 / 7739
39
 (HPO:0001270) Motor delay 322 / 7739
40
 (HPO:0001519) Disproportionate tall stature 39 / 7739
41
 (HPO:0001558) Decreased fetal movement 74 / 7739
42
 (HPO:0001633) Abnormality of the mitral valve Very frequent [Orphanet] 69 / 7739
43
 (HPO:0001635) Congestive heart failure 232 / 7739
44
 (HPO:0001763) Pes planus 176 / 7739
45
 (HPO:0001788) Premature rupture of membranes 5 / 7739
46
 (HPO:0002093) Respiratory insufficiency 410 / 7739
47
 (HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
48
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
49
 (HPO:0005280) Depressed nasal bridge 381 / 7739
50
 (HPO:0005952) Decreased pulmonary function 8 / 7739
51
 (HPO:0006532) Recurrent pneumonia 48 / 7739
52
 (HPO:0007517) Palmoplantar cutis laxa 9 / 7739
53
 (HPO:0008458) Progressive congenital scoliosis 1 / 7739
54
 (OMIM) Normal to tall stature 3 / 7739
55
 (OMIM) Ocular rupture 1 / 7739
56
 (OMIM) Recurrent episodes of pneumonia 1 / 7739
57
 (OMIM) Soft thin skin 3 / 7739
58
 (OMIM) Moderate scarring 1 / 7739
59
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
60
 (HPO:0010547) Muscle flaccidity 466 / 7739
61
 (OMIM) Lysyl hydroxylase deficiency 1 / 7739
62
 (OMIM) Decreased dermal hydroxylysine content 1 / 7739
63
 (HPO:0100692) Increased corneal curvature Frequent [Orphanet] 13 / 7739
64
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739