Symptom Information: Sort according to HPO 

1
(HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
2
(HPO:0001025) Urticaria Frequent [Orphanet] 73 / 7739
3
(HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
4
(HPO:0001761) Pes cavus Occasional [Orphanet] 225 / 7739
5
(HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
6
(HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
7
(HPO:0001769) Broad foot Very frequent [Orphanet] 31 / 7739
8
(HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
9
(HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
10
(HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
11
(HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
12
(HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
13
(HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
14
(HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
15
(HPO:0011227) Elevated C-reactive protein level Frequent [Orphanet] 55 / 7739
16
(HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
17
(HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
18
(HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
19
(HPO:0000100) Nephrotic syndrome Frequent [Orphanet] 83 / 7739
20
(HPO:0001939) Abnormality of metabolism/homeostasis Frequent [Orphanet] 328 / 7739
21
(HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
22
(HPO:0000509) Conjunctivitis 47 / 7739
23
(HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
24
(HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
25
(HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
26
(HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
27
(HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
28
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
29
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
30
(HPO:0001945) Fever Occasional [Orphanet] 218 / 7739
31
(HPO:0002091) Restrictive ventilatory defect Occasional [Orphanet] 46 / 7739
32
(HPO:0000083) Renal insufficiency 232 / 7739
33
(HPO:0000365) Hearing impairment 539 / 7739
34
(HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
35
(HPO:0000951) Abnormality of the skin 147 / 7739
36
(HPO:0001917) Renal amyloidosis 8 / 7739
37
(HPO:0001954) Episodic fever 27 / 7739
38
(HPO:0001974) Leukocytosis 33 / 7739
39
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
40
(HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
41
(OMIM) Sensorineural deafness, progressive, late-onset 1 / 7739
42
(OMIM) Conjunctivitis, episodic 1 / 7739
43
(OMIM) Renal amyloidosis, late-onset 2 / 7739
44
(OMIM) Arthralgia, episodic 2 / 7739
45
(OMIM) Lower extremity pain 1 / 7739
46
(OMIM) Maculopapular rash, episodic 2 / 7739
47
(OMIM) Rash may or may not be pruritic 2 / 7739
48
(OMIM) Episodic myalgia 3 / 7739
49
(OMIM) Polymorphonuclear leukocytosis, episodic 2 / 7739
50
(OMIM) Increased IL6, episodic 1 / 7739
51
(OMIM) Increased erythrocyte sedimentation rate, episodic 1 / 7739
52
(HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
53
(HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
54
(HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
55
(OMIM) Stiff skin Very frequent [Orphanet] 31 / 7739
56
(HPO:0011830) Abnormality of oral mucosa Occasional [Orphanet] 47 / 7739
57
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
58
(HPO:0002829) Arthralgia 79 / 7739
59
(HPO:0003593) Infantile onset 249 / 7739