1
|
(HPO:0011020)
|
Abnormality of mucopolysaccharide metabolism |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
22074387
|
IBIS
|
17 / 7739
|
2
|
(HPO:0000280)
|
Coarse facial features |
Frequent [IBIS]
Frequent [Orphanet]
|
|
24675674; 22074387
|
IBIS
|
189 / 7739
|
3
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [IBIS]
Frequent [Orphanet]
|
|
24675674
|
IBIS
|
467 / 7739
|
4
|
(HPO:0007957)
|
Corneal opacity |
Frequent [IBIS]
|
|
24675674; 19117856; 813180; 22074387; 11414650
|
IBIS
|
84 / 7739
|
5
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
Frequent [IBIS]
|
|
24675674
|
IBIS
|
16 / 7739
|
6
|
(HPO:0100790)
|
Hernia |
Frequent [IBIS]
|
|
24675674
|
IBIS
|
9 / 7739
|
7
|
(HPO:0002828)
|
Multiple joint contractures |
Frequent [IBIS]
|
|
24675674
|
IBIS
|
16 / 7739
|
8
|
(HPO:0001654)
|
Abnormality of the heart valves |
Frequent [IBIS]
|
|
24675674
|
IBIS
|
49 / 7739
|
9
|
(HPO:0000943)
|
Dysostosis multiplex |
Frequent [IBIS]
|
|
24675674; 19117856; 813180
|
IBIS
|
22 / 7739
|
10
|
(HPO:0000501)
|
Glaucoma |
Occasional [IBIS]
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
24675674; 19117856
|
IBIS
|
180 / 7739
|
11
|
(HPO:0001744)
|
Splenomegaly |
Occasional [IBIS]
Frequent [Orphanet]
|
|
24675674
|
IBIS
|
337 / 7739
|
12
|
(HPO:0001761)
|
Pes cavus |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
225 / 7739
|
13
|
(HPO:0002857)
|
Genu valgum |
Occasional [IBIS]
|
|
24675674; 19117856
|
IBIS
|
144 / 7739
|
14
|
(HPO:0002808)
|
Kyphosis |
Occasional [IBIS]
|
|
24675674; 19117856
|
IBIS
|
289 / 7739
|
15
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
113 / 7739
|
16
|
(MedDRA:10041235)
|
Snoring |
Occasional [IBIS]
|
|
24675674; 19117856
|
IBIS
|
8 / 7739
|
17
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
230 / 7739
|
18
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [IBIS]
|
|
24675674; 19117856
|
IBIS
|
242 / 7739
|
19
|
(HPO:0000158)
|
Macroglossia |
Occasional [IBIS]
|
|
24675674; 19117856; 22074387
|
IBIS
|
119 / 7739
|
20
|
(HPO:0002196)
|
Myelopathy |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
6 / 7739
|
21
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
192 / 7739
|
22
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
232 / 7739
|
23
|
(HPO:0100765)
|
Abnormality of the tonsils |
Occasional [IBIS]
|
|
24675674; 19117856
|
IBIS
|
10 / 7739
|
24
|
(OMIM)
|
Enlarged tonsils |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
3 / 7739
|
25
|
(HPO:0002099)
|
Asthma |
Occasional [IBIS]
|
|
24675674; 19117856
|
IBIS
|
62 / 7739
|
26
|
(HPO:0002650)
|
Scoliosis |
Occasional [IBIS]
|
|
24675674; 19117856
|
IBIS
|
705 / 7739
|
27
|
(HPO:0040083)
|
Toe walking |
Occasional [IBIS]
|
|
24675674
|
IBIS
|
15 / 7739
|
28
|
(HPO:0001648)
|
Cor pulmonale |
Rare [IBIS]
|
|
24675674
|
IBIS
|
16 / 7739
|
29
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
19117856; 22074387
|
IBIS
|
322 / 7739
|
30
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Very frequent [Orphanet]
|
|
22074387
|
IBIS
|
55 / 7739
|
31
|
(HPO:0000546)
|
Retinal degeneration |
rare [HPO:skoehler]
|
|
19117856
|
IBIS
|
61 / 7739
|
32
|
(HPO:0002870)
|
Obstructive sleep apnea |
|
|
19117856
|
IBIS
|
16 / 7739
|
33
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
22074387
|
IBIS
|
115 / 7739
|
34
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
19117856
|
IBIS
|
124 / 7739
|
35
|
(HPO:0004371)
|
Abnormality of glycosaminoglycan metabolism |
|
|
19117856
|
IBIS
|
3 / 7739
|
36
|
(HPO:0003541)
|
Urinary glycosaminoglycan excretion |
|
|
19117856; 813180
|
IBIS
|
6 / 7739
|
37
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
19117856
|
IBIS
|
32 / 7739
|
38
|
(HPO:0002315)
|
Headache |
|
|
19117856
|
IBIS
|
175 / 7739
|
39
|
(HPO:0007807)
|
Optic nerve compression |
|
|
19117856
|
IBIS
|
6 / 7739
|
40
|
(HPO:0002176)
|
Spinal cord compression |
|
|
19117856
|
IBIS
|
15 / 7739
|
41
|
(HPO:0008462)
|
Cervical instability |
|
|
19117856
|
IBIS
|
4 / 7739
|
42
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
19117856
|
IBIS
|
61 / 7739
|
43
|
(HPO:0001288)
|
Gait disturbance |
|
|
19117856
|
IBIS
|
318 / 7739
|
44
|
(HPO:0011109)
|
Chronic sinusitis |
|
|
19117856
|
IBIS
|
17 / 7739
|
45
|
(HPO:0000529)
|
Progressive visual loss |
|
|
19117856
|
IBIS
|
54 / 7739
|
46
|
(HPO:0007994)
|
Peripheral visual field loss |
|
|
19117856
|
IBIS
|
13 / 7739
|
47
|
(HPO:0000662)
|
Nyctalopia |
|
|
19117856
|
IBIS
|
92 / 7739
|
48
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
19117856
|
IBIS
|
410 / 7739
|
49
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
19117856
|
IBIS
|
46 / 7739
|
50
|
(HPO:0040261)
|
Increased size of nasopharyngeal adenoids |
|
|
19117856
|
IBIS
|
4 / 7739
|
51
|
(HPO:0002777)
|
Tracheal stenosis |
|
|
19117856
|
IBIS
|
35 / 7739
|
52
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
19117856; 813180; 22074387; 11414650
|
IBIS
|
78 / 7739
|
53
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
19117856
|
IBIS
|
131 / 7739
|
54
|
(HPO:0030043)
|
Hip Subluxation |
|
|
19117856
|
IBIS
|
9 / 7739
|
55
|
(HPO:0003040)
|
Arthropathy |
|
|
19117856
|
IBIS
|
19 / 7739
|
56
|
(HPO:0004322)
|
Short stature |
|
|
19117856
|
IBIS
|
1232 / 7739
|
57
|
(HPO:0003418)
|
Back pain |
|
|
19117856
|
IBIS
|
17 / 7739
|
58
|
(HPO:0000938)
|
Osteopenia |
|
|
19117856
|
IBIS
|
138 / 7739
|
59
|
(HPO:0000168)
|
Abnormality of the gingiva |
|
|
19117856
|
IBIS
|
51 / 7739
|
60
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
19117856
|
IBIS
|
291 / 7739
|
61
|
(HPO:0000682)
|
Abnormality of dental enamel |
|
|
19117856
|
IBIS
|
102 / 7739
|
62
|
(HPO:0000670)
|
Carious teeth |
|
|
19117856
|
IBIS
|
145 / 7739
|
63
|
(HPO:0000023)
|
Inguinal hernia |
|
|
19117856
|
IBIS
|
181 / 7739
|
64
|
(HPO:0001537)
|
Umbilical hernia |
|
|
19117856; 813180
|
IBIS
|
206 / 7739
|
65
|
(HPO:0002014)
|
Diarrhea |
|
|
19117856
|
IBIS
|
225 / 7739
|
66
|
(HPO:0002019)
|
Constipation |
|
|
19117856
|
IBIS
|
194 / 7739
|
67
|
(HPO:0002027)
|
Abdominal pain |
|
|
19117856
|
IBIS
|
184 / 7739
|
68
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
813180
|
IBIS
|
48 / 7739
|
69
|
(HPO:0000389)
|
Chronic otitis media |
|
|
813180
|
IBIS
|
64 / 7739
|
70
|
(HPO:0004469)
|
Chronic bronchitis |
|
|
813180
|
IBIS
|
17 / 7739
|
71
|
(HPO:0002257)
|
Chronic rhinitis |
|
|
813180
|
IBIS
|
10 / 7739
|
72
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
813180
|
IBIS
|
212 / 7739
|
73
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
813180
|
IBIS
|
27 / 7739
|
74
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
813180
|
IBIS
|
84 / 7739
|
75
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
813180
|
IBIS
|
64 / 7739
|
76
|
(HPO:0011510)
|
Drusen |
|
|
813180
|
IBIS
|
6 / 7739
|
77
|
(HPO:0040090)
|
Abnormality of the tympanic membrane |
|
|
813180
|
IBIS
|
3 / 7739
|
78
|
(HPO:0001007)
|
Hirsutism |
|
|
813180
|
IBIS
|
91 / 7739
|
79
|
(HPO:0004356)
|
Abnormality of lysosomal metabolism |
|
|
22074387
|
IBIS
|
6 / 7739
|
80
|
(HPO:0008301)
|
Dermatan sulfate excretion in urine |
|
|
813180; 22074387; 11414650
|
IBIS
|
8 / 7739
|
81
|
(HPO:0002159)
|
Heparan sulfate excretion in urine |
|
|
813180; 22074387; 11414650
|
IBIS
|
12 / 7739
|
82
|
(HPO:0001263)
|
Global developmental delay |
|
|
22074387
|
IBIS
|
853 / 7739
|
83
|
(HPO:0000238)
|
Hydrocephalus |
|
|
22074387
|
IBIS
|
278 / 7739
|
84
|
(HPO:0000574)
|
Thick eyebrow |
|
|
22074387
|
IBIS
|
96 / 7739
|
85
|
(HPO:0000520)
|
Proptosis |
|
|
22074387
|
IBIS
|
192 / 7739
|
86
|
(HPO:0010307)
|
Stridor |
|
|
22074387
|
IBIS
|
19 / 7739
|
87
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
22074387
|
IBIS
|
29 / 7739
|
88
|
(HPO:0003546)
|
Exercise intolerance |
|
|
11414650
|
IBIS
|
62 / 7739
|
89
|
(HPO:0009020)
|
Exercise-induced muscle fatigue |
|
|
11414650
|
IBIS
|
4 / 7739
|
90
|
(HPO:0001324)
|
Muscle weakness |
|
|
11414650
|
IBIS
|
859 / 7739
|
91
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
11414650
|
IBIS
|
19 / 7739
|
92
|
(HPO:0003391)
|
Gowers sign |
|
|
11414650
|
IBIS
|
37 / 7739
|
93
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
11414650
|
IBIS
|
96 / 7739
|
94
|
(HPO:0008445)
|
Cervical spinal canal stenosis |
|
|
11414650
|
IBIS
|
3 / 7739
|
95
|
(HPO:0000772)
|
Abnormality of the ribs |
|
|
11414650
|
IBIS
|
146 / 7739
|