Symptom Information: Sort according to HPO 

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