Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
3
 (HPO:0001025) Urticaria Occasional [Orphanet] 73 / 7739
4
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
5
 (HPO:0001519) Disproportionate tall stature Frequent [Orphanet] 39 / 7739
6
 (HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
7
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
8
 (HPO:0002039) Anorexia Occasional [Orphanet] 62 / 7739
9
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
10
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
11
 (HPO:0000678) Dental crowding 65 / 7739
12
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
13
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
14
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
15
 (HPO:0000218) High palate 356 / 7739
16
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
17
 (HPO:0001297) Stroke 44 / 7739
18
 (HPO:0002140) Ischemic stroke Frequent [Orphanet] 70 / 7739
19
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
20
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
21
 (HPO:0100026) Arteriovenous malformation Frequent [Orphanet] 38 / 7739
22
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
23
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
24
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
25
 (HPO:0000939) Osteoporosis 129 / 7739
26
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
27
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
28
 (HPO:0002204) Pulmonary embolism Frequent [Orphanet] 26 / 7739
29
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
30
 (HPO:0004420) Arterial thrombosis Frequent [Orphanet] 20 / 7739
31
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
32
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
33
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
34
 (HPO:0001166) Arachnodactyly 62 / 7739
35
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
36
 (HPO:0001083) Ectopia lentis Very frequent [Orphanet] 45 / 7739
37
 (HPO:0004936) Venous thrombosis Frequent [Orphanet] 41 / 7739
38
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 40 / 7739
39
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
40
 (HPO:0001249) Intellectual disability 1089 / 7739
41
 (HPO:0002040) Esophageal varix Occasional [Orphanet] 23 / 7739
42
 (HPO:0000023) Inguinal hernia 181 / 7739
43
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
44
 (HPO:0000965) Cutis marmorata 46 / 7739
45
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
46
 (HPO:0001376) Limitation of joint mobility 27 / 7739
47
 (HPO:0001397) Hepatic steatosis 75 / 7739
48
 (HPO:0001508) Failure to thrive Occasional [HPO:probinson] 454 / 7739
49
 (HPO:0001634) Mitral valve prolapse 69 / 7739
50
 (HPO:0001658) Myocardial infarction 30 / 7739
51
 (HPO:0001733) Pancreatitis 46 / 7739
52
 (HPO:0001907) Thromboembolism 15 / 7739
53
 (HPO:0002156) Homocystinuria 12 / 7739
54
 (HPO:0002299) Brittle hair 52 / 7739
55
 (HPO:0002751) Kyphoscoliosis 131 / 7739
56
 (HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
57
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
58
 (HPO:0004586) Biconcave vertebral bodies 15 / 7739
59
 (HPO:0012075) Personality disorder 4 / 7739
60
 (OMIM) Normal to tall stature 3 / 7739
61
 (OMIM) Occasional failure to thrive in infancy 1 / 7739
62
 (OMIM) Fatty changes in liver 1 / 7739
63
 (OMIM) Malar flush 1 / 7739
64
 (OMIM) Fine, brittle hair 2 / 7739
65
 (HPO:0000716) Depression 99 / 7739
66
 (OMIM) Methioninuria 1 / 7739
67
 (MedDRA:10071093) Cystathionine beta-synthase deficiency 1 / 7739
68
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
69
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
70
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
71
 (HPO:0040160) Generalized osteoporosis 7 / 7739