Symptom Information: Sort according to HPO 

1
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
2
 (HPO:0000491) Keratitis 21 / 7739
3
 (HPO:0001760) Abnormality of the foot Very frequent [Orphanet] 96 / 7739
4
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
5
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
6
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
7
 (HPO:0000677) Oligodontia 41 / 7739
8
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
9
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
10
 (HPO:0002829) Arthralgia 79 / 7739
11
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
12
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
13
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
14
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
15
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
16
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
17
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
18
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
19
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
20
 (HPO:0000618) Blindness 124 / 7739
21
 (HPO:0001171) Split hand 72 / 7739
22
 (HPO:0001371) Flexion contracture 220 / 7739
23
 (HPO:0001769) Broad foot 31 / 7739
24
 (HPO:0001785) Ankle swelling 3 / 7739
25
 (HPO:0002164) Nail dysplasia 82 / 7739
26
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
27
 (HPO:0008404) Nail dystrophy 89 / 7739
28
 (HPO:0009473) Joint contracture of the hand 84 / 7739
29
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
30
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
31
 (HPO:0000505) Visual impairment 297 / 7739
32
 (HPO:0003365) Arthralgia of the hip 10 / 7739
33
 (OMIM) Secondary scoliosis 1 / 7739
34
 (OMIM) Fistulous osteolysis around joints 1 / 7739
35
 (OMIM) Knee swelling 1 / 7739
36
 (OMIM) Recurrent skin ulcerations (face, trunk, limbs) 1 / 7739
37
 (OMIM) Recurrent fever 3 / 7739
38
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
39
 (HPO:0000504) Abnormality of vision Very frequent [Orphanet] 22 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (HPO:0003593) Infantile onset 249 / 7739