Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
3
 (HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
4
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
5
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
6
 (HPO:0001807) Ridged nail 20 / 7739
7
 (HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
8
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
9
 (HPO:0002967) Cubitus valgus Very frequent [Orphanet] 49 / 7739
10
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
11
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
12
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
13
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
14
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
15
 (HPO:0000100) Nephrotic syndrome Frequent [Orphanet] 83 / 7739
16
 (HPO:0000790) Hematuria Occasional [Orphanet] 106 / 7739
17
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
18
 (HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
19
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
20
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
21
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
22
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
23
 (HPO:0002814) Abnormality of the lower limb Frequent [Orphanet] 23 / 7739
24
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
25
 (HPO:0100820) Glomerulopathy Occasional [Orphanet] 46 / 7739
26
 (HPO:0000099) Glomerulonephritis 13 / 7739
27
 (HPO:0000175) Cleft palate 349 / 7739
28
 (HPO:0000204) Cleft upper lip 193 / 7739
29
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
30
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
31
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
32
 (HPO:0000482) Microcornea 102 / 7739
33
 (HPO:0000508) Ptosis 459 / 7739
34
 (HPO:0000563) Keratoconus 25 / 7739
35
 (HPO:0000767) Pectus excavatum 244 / 7739
36
 (HPO:0001032) Absent distal interphalangeal creases 9 / 7739
37
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
38
 (HPO:0001377) Limited elbow extension 38 / 7739
39
 (HPO:0001598) Concave nail 14 / 7739
40
 (HPO:0001762) Talipes equinovarus 309 / 7739
41
 (HPO:0001763) Pes planus 176 / 7739
42
 (HPO:0001798) Anonychia 28 / 7739
43
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
44
 (HPO:0002414) Spina bifida 47 / 7739
45
 (HPO:0002650) Scoliosis 705 / 7739
46
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
47
 (HPO:0002999) Patellar dislocation 46 / 7739
48
 (HPO:0003997) Hypoplastic radial head 2 / 7739
49
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
50
 (HPO:0004322) Short stature 1232 / 7739
51
 (HPO:0005255) Absence of pectoralis minor muscle 2 / 7739
52
 (HPO:0006424) Elongated radius 1 / 7739
53
 (HPO:0006437) Disproportionate prominence of the femoral medial condyle 1 / 7739
54
 (HPO:0006633) Glenoid fossa hypoplasia 2 / 7739
55
 (HPO:0006650) Thickening of the lateral border of the scapula 1 / 7739
56
 (HPO:0006657) Hypoplasia of first ribs 3 / 7739
57
 (HPO:0009760) Antecubital pterygium 5 / 7739
58
 (HPO:0009780) Iliac horns 1 / 7739
59
 (HPO:0009781) Lester's sign 1 / 7739
60
 (HPO:0009783) Biceps aplasia 1 / 7739
61
 (HPO:0009785) Triceps aplasia 1 / 7739
62
 (HPO:0009788) Quadriceps aplasia 1 / 7739
63
 (HPO:0012376) Microphakia 2 / 7739
64
 (HPO:0008034) Abnormal iris pigmentation 3 / 7739
65
 (OMIM) Malformed sternum 1 / 7739
66
 (OMIM) Iliac horns arising from external iliac fossa 1 / 7739
67
 (OMIM) Elongated radius with hypoplasia of radial head 1 / 7739
68
 (OMIM) Elbow deformities (60-90%) with limited range of motion 1 / 7739
69
 (OMIM) Abnormally shaped triangular or absent lunulae 1 / 7739
70
 (OMIM) Slow nail growth 1 / 7739
71
 (OMIM) Severity of nail involvement worse radial to ulnar side 1 / 7739
72
 (OMIM) Toenails involved in 1/7 individuals 1 / 7739
73
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
74
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Frequent [Orphanet] 25 / 7739
75
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
76
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
77
 (HPO:0006443) Patellar aplasia common [HPO:skoehler] 14 / 7739