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
|