Symptom Information: Sort according to HPO 

1
 (HPO:0000280) Coarse facial features Very frequent [IBIS] Very frequent [Orphanet] 26023658; 26633932; 24818348; 16918195; 18038146 IBIS 189 / 7739
2
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [IBIS] Very frequent [Orphanet] 18038146 IBIS 17 / 7739
3
 (HPO:0001387) Joint stiffness Frequent [IBIS] Occasional [Orphanet] 26023658; 18245410; 24818348; 16918195; 18038146 IBIS 322 / 7739
4
 (HPO:0000158) Macroglossia Frequent [IBIS] Occasional [Orphanet] 26023658; 26633932; 18245410; 24818348; 16918195; 18038146 IBIS 119 / 7739
5
 (HPO:0000023) Inguinal hernia Frequent [IBIS] 26023658; 26633932; 18245410; 18038146 IBIS 181 / 7739
6
 (HPO:0000256) Macrocephaly Frequent [IBIS] Very frequent [Orphanet] 26023658; 18245410; 16918195; 18038146 IBIS 298 / 7739
7
 (HPO:0001385) Hip dysplasia Frequent [IBIS] Frequent [Orphanet] 18038146 IBIS 242 / 7739
8
 (HPO:0000365) Hearing impairment Frequent [IBIS] Very frequent [Orphanet] 26633932; 18245410; 18038146 IBIS 539 / 7739
9
 (HPO:0001537) Umbilical hernia Frequent [IBIS] Frequent [Orphanet] 26633932; 24818348; 24818348; 16918195; 18038146 IBIS 206 / 7739
10
 (HPO:0004322) Short stature Frequent [IBIS] Very frequent [Orphanet] 26023658; 18245410; 24818348; 16918195; 18038146 IBIS 1232 / 7739
11
 (HPO:0000403) Recurrent otitis media Frequent [IBIS] 26633932; 18245410; 18038146 IBIS 61 / 7739
12
 (HPO:0000943) Dysostosis multiplex Frequent [IBIS] 18245410; 18038146 IBIS 22 / 7739
13
 (HPO:0001626) Abnormality of the cardiovascular system Frequent [IBIS] Frequent [Orphanet] 16918195 IBIS 73 / 7739
14
 (HPO:0001635) Congestive heart failure Frequent [IBIS] 18245410; 16918195 IBIS 232 / 7739
15
 (HPO:0001654) Abnormality of the heart valves Frequent [IBIS] 26633932; 18245410; 18038146 IBIS 49 / 7739
16
 (HPO:0002159) Heparan sulfate excretion in urine Frequent [IBIS] 16918195; 18038146 IBIS 12 / 7739
17
 (HPO:0008301) Dermatan sulfate excretion in urine Frequent [IBIS] 16918195; 18038146 IBIS 8 / 7739
18
 (HPO:0001538) Protuberant abdomen Frequent [IBIS] 26023658; 18245410; 24818348; 16918195; 18038146 IBIS 36 / 7739
19
 (HPO:0001433) Hepatosplenomegaly Frequent [IBIS] 26023658; 26633932; 18245410; 24818348; 16918195; 18038146 IBIS 78 / 7739
20
 (HPO:0002788) Recurrent upper respiratory tract infections Frequent [IBIS] 26633932; 18245410; 18038146 IBIS 31 / 7739
21
 (HPO:0000924) Abnormality of the skeletal system Frequent [IBIS] 26633932; 16918195; 18038146 IBIS 114 / 7739
22
 (HPO:0001376) Limitation of joint mobility Frequent [IBIS] 18245410; 18038146 IBIS 27 / 7739
23
 (HPO:0001638) Cardiomyopathy Frequent [IBIS] 18038146 IBIS 192 / 7739
24
 (HPO:0001334) Communicating hydrocephalus Rare [IBIS] 18038146 IBIS 32 / 7739
25
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 16918195 IBIS 85 / 7739
26
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 24818348; 16918195 IBIS 144 / 7739
27
 (HPO:0000998) Hypertrichosis 24818348; 18038146 IBIS 52 / 7739
28
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 26633932; 6816147 IBIS 179 / 7739
29
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 18245410; 18038146 IBIS 35 / 7739
30
 (HPO:0001085) Papilledema 18038146 IBIS 31 / 7739
31
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 26023658; 24818348 IBIS 381 / 7739
32
 (HPO:0000470) Short neck Very frequent [Orphanet] 24818348 IBIS 345 / 7739
33
 (HPO:0002808) Kyphosis Occasional [Orphanet] 26023658; 18038146 IBIS 289 / 7739
34
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 26023658; 18245410; 16918195 IBIS 87 / 7739
35
 (HPO:0001250) Seizures Frequent [Orphanet] 26023658; 18038146 IBIS 1245 / 7739
36
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 16918195 IBIS 266 / 7739
37
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 26023658 IBIS 291 / 7739
38
 (HPO:0000238) Hydrocephalus 16918195 IBIS 278 / 7739
39
 (HPO:0000687) Widely spaced teeth 24818348 IBIS 40 / 7739
40
 (HPO:0001171) Split hand 26023658 IBIS 72 / 7739
41
 (HPO:0001371) Flexion contracture 18245410 IBIS 220 / 7739
42
 (HPO:0001609) Hoarse voice 6816147 IBIS 34 / 7739
43
 (HPO:0002014) Diarrhea 18038146 IBIS 225 / 7739
44
 (HPO:0002180) Neurodegeneration 16918195 IBIS 31 / 7739
45
 (HPO:0002341) Cervical cord compression 18038146 IBIS 3 / 7739
46
 (HPO:0002786) Tracheobronchomalacia 18245410 IBIS 4 / 7739
47
 (HPO:0002870) Obstructive sleep apnea 16918195; 18038146 IBIS 16 / 7739
48
 (OMIM) No corneal opacities 16918195 IBIS 2 / 7739
49
 (OMIM) Mucoid nasal discharge 18038146 IBIS 1 / 7739
50
 (HPO:0012471) Thick vermilion border 18245410; 24818348; 16918195; 18038146 IBIS 115 / 7739
51
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 18038146 IBIS 949 / 7739
52
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 18245410 IBIS 187 / 7739
53
 (HPO:0000692) Misalignment of teeth 26023658 IBIS 18 / 7739
54
 (HPO:0008897) Postnatal growth retardation 26023658 IBIS 113 / 7739
55
 (HPO:0002007) Frontal bossing 26023658 IBIS 366 / 7739
56
 (HPO:0009931) Enlarged naris 26023658 IBIS 1 / 7739
57
 (HPO:0100539) Periorbital edema 26023658; 16918195 IBIS 8 / 7739
58
 (HPO:0000574) Thick eyebrow 26023658 IBIS 96 / 7739
59
 (HPO:0000316) Hypertelorism 26023658 IBIS 644 / 7739
60
 (HPO:0100540) Palpebral edema 26023658 IBIS 31 / 7739
61
 (HPO:0030148) Heart murmur 26023658; 18245410; 24818348; 16918195 IBIS 29 / 7739
62
 (HPO:0200095) Anterior open bite 26023658 IBIS 8 / 7739
63
 (HPO:0002684) Thickened calvaria 26023658; 16918195; 18038146 IBIS 32 / 7739
64
 (HPO:0002680) J-shaped sella turcica 26023658; 24818348 IBIS 15 / 7739
65
 (HPO:0000772) Abnormality of the ribs 26023658; 24818348 IBIS 146 / 7739
66
 (HPO:0008430) Anterior beaking of lumbar vertebrae 26023658; 16918195 IBIS 5 / 7739
67
 (HPO:0006119) Proximal tapering of metacarpals 26023658; 24818348 IBIS 3 / 7739
68
 (HPO:0011079) Impacted tooth 26023658 IBIS 3 / 7739
69
 (HPO:0000679) Taurodontia 26023658 IBIS 27 / 7739
70
 (HPO:0003155) Elevated alkaline phosphatase 26023658 IBIS 52 / 7739
71
 (HPO:0010808) Protruding tongue 26633932; 18245410 IBIS 28 / 7739
72
 (HPO:0002781) Upper airway obstruction 26633932; 16918195; 18038146 IBIS 7 / 7739
73
 (HPO:0002828) Multiple joint contractures 26633932; 18245410; 24818348 IBIS 16 / 7739
74
 (HPO:0002344) Progressive neurologic deterioration 26633932; 18038146 IBIS 27 / 7739
75
 (HPO:0003541) Urinary glycosaminoglycan excretion 18245410; 24818348 IBIS 6 / 7739
76
 (HPO:0001999) Abnormal facial shape 18245410 IBIS 169 / 7739
77
 (HPO:0005952) Decreased pulmonary function 18245410 IBIS 8 / 7739
78
 (HPO:0001640) Cardiomegaly 18245410; 16918195 IBIS 81 / 7739
79
 (HPO:0001288) Gait disturbance 18245410 IBIS 318 / 7739
80
 (MedDRA:10041235) Snoring 18245410 IBIS 8 / 7739
81
 (HPO:0002376) Developmental regression 18245410 IBIS 74 / 7739
82
 (HPO:0000445) Wide nose 18245410 IBIS 190 / 7739
83
 (HPO:0000454) Flared nostrils 18245410 IBIS 11 / 7739
84
 (HPO:0000336) Prominent supraorbital ridges 18245410 IBIS 45 / 7739
85
 (HPO:0000293) Full cheeks 18245410 IBIS 85 / 7739
86
 (HPO:0100774) Hyperostosis 18245410 IBIS 17 / 7739
87
 (HPO:0010656) Abnormal epiphyseal ossification 18245410 IBIS 1 / 7739
88
 (MedDRA:10007697) Carpal tunnel syndrome 18245410; 16918195; 18038146 IBIS 16 / 7739
89
 (HPO:0001155) Abnormality of the hand 18245410 IBIS 54 / 7739
90
 (HPO:0000889) Abnormality of the clavicle 18245410 IBIS 3 / 7739
91
 (HPO:0003312) Abnormal form of the vertebral bodies 18245410 IBIS 172 / 7739
92
 (HPO:0040083) Toe walking 18245410 IBIS 15 / 7739
93
 (HPO:0001771) Achilles tendon contracture 18245410 IBIS 27 / 7739
94
 (HPO:0000479) Abnormality of the retina 18245410 IBIS 74 / 7739
95
 (HPO:0000529) Progressive visual loss 18245410 IBIS 54 / 7739
96
 (HPO:0000591) Abnormality of the sclera 18245410 IBIS 3 / 7739
97
 (HPO:0007807) Optic nerve compression 18245410 IBIS 6 / 7739
98
 (HPO:3000033) Abnormality of nasopharyngeal adenoids 18245410; 18038146 IBIS 4 / 7739
99
 (MedDRA:10001229) Adenoidal hypertrophy 18245410 IBIS 3 / 7739
100
 (HPO:0100765) Abnormality of the tonsils 18245410 IBIS 10 / 7739
101
 (OMIM) Hypertrophic tonsils 18245410 IBIS 2 / 7739
102
 (Orphanet:3780) Limited opening of the mouth 18245410 IBIS 1 / 7739
103
 (HPO:0002880) Respiratory difficulties 18245410 IBIS 15 / 7739
104
 (HPO:0001730) Progressive hearing impairment 18245410 IBIS 29 / 7739
105
 (HPO:0000698) Conical tooth 18245410 IBIS 14 / 7739
106
 (HPO:0000212) Gingival overgrowth 18245410; 25071396 IBIS 43 / 7739
107
 (HPO:0002094) Dyspnea 18245410; 18038146 IBIS 132 / 7739
108
 (HPO:0002109) Abnormality of the bronchi 18245410 IBIS 6 / 7739
109
 (HPO:0005483) Abnormality of the epiglottis 18245410 IBIS 1 / 7739
110
 (HPO:0006532) Recurrent pneumonia 18245410 IBIS 48 / 7739
111
 (MedDRA:10071730) Increased viscosity of nasal secretion 18245410 IBIS 1 / 7739
112
 (MedDRA:10054761) Increased viscosity of bronchial secretion 18245410 IBIS 1 / 7739
113
 (HPO:0010754) Abnormality of the temporomandibular joint 18245410 IBIS 1 / 7739
114
 (OMIM) Chest wall rigidity 18245410 IBIS 2 / 7739
115
 (HPO:0010535) Sleep apnea 18245410 IBIS 24 / 7739
116
 (HPO:0001714) Ventricular hypertrophy 18245410 IBIS 20 / 7739
117
 (HPO:0001633) Abnormality of the mitral valve 18245410 IBIS 69 / 7739
118
 (HPO:0001646) Abnormality of the aortic valve 18245410; 16918195 IBIS 55 / 7739
119
 (HPO:0100679) Lack of skin elasticity 18245410; 16918195 IBIS 29 / 7739
120
 (HPO:0200034) Papule 18245410; 16918195; 18038146 IBIS 12 / 7739
121
 (HPO:0000014) Abnormality of the bladder 18245410 IBIS 3 / 7739
122
 (HPO:0000016) Urinary retention 18245410 IBIS 7 / 7739
123
 (HPO:0011342) Mild global developmental delay 24818348 IBIS 10 / 7739
124
 (HPO:0001822) Hallux valgus 24818348 IBIS 70 / 7739
125
 (HPO:0002690) Large sella turcica 24818348 IBIS 12 / 7739
126
 (HPO:0008513) Bilateral conductive hearing impairment 24818348 IBIS 11 / 7739
127
 (HPO:0001653) Mitral regurgitation 24818348; 16918195 IBIS 64 / 7739
128
 (HPO:0000988) Skin rash 16918195 IBIS 98 / 7739
129
 (HPO:0007675) Progressive night blindness 16918195 IBIS 4 / 7739
130
 (HPO:0001659) Aortic regurgitation 16918195 IBIS 36 / 7739
131
 (HPO:0000956) Acanthosis nigricans 16918195 IBIS 54 / 7739
132
 (HPO:0001488) Bilateral ptosis 16918195 IBIS 42 / 7739
133
 (HPO:0000242) Parietal bossing 16918195 IBIS 11 / 7739
134
 (HPO:0006012) Widened metacarpal shaft 16918195 IBIS 3 / 7739
135
 (HPO:0003300) Ovoid vertebral bodies 16918195 IBIS 21 / 7739
136
 (HPO:0001634) Mitral valve prolapse 16918195 IBIS 69 / 7739
137
 (HPO:0002098) Respiratory distress 16918195 IBIS 75 / 7739
138
 (HPO:0002878) Respiratory failure 16918195 IBIS 57 / 7739
139
 (OMIM) Pseudotumor cerebri 16918195 IBIS 3 / 7739
140
 (HPO:0002673) Coxa valga 16918195 IBIS 57 / 7739
141
 (HPO:0008417) Vertebral hypoplasia 16918195 IBIS 6 / 7739
142
 (HPO:0001602) Laryngeal stenosis 18038146 IBIS 21 / 7739
143
 (HPO:0002779) Tracheomalacia 18038146 IBIS 26 / 7739
144
 (HPO:0003040) Arthropathy 18038146 IBIS 19 / 7739
145
 (HPO:0002318) Cervical myelopathy 18038146 IBIS 10 / 7739
146
 (HPO:0011369) Mongolian blue spot 18038146 IBIS 1 / 7739
147
 (HPO:0006543) Cardiorespiratory arrest 18038146 IBIS 11 / 7739
148
 (HPO:0002650) Scoliosis 18038146 IBIS 705 / 7739
149
 (HPO:0009928) Thick nasal alae 18038146 IBIS 21 / 7739
150
 (HPO:0009748) Large earlobe 18038146 IBIS 27 / 7739
151
 (HPO:0001050) Plethora 18038146 IBIS 3 / 7739
152
 (HPO:0002208) Coarse hair 18038146 IBIS 58 / 7739
153
 (HPO:0000750) Delayed speech and language development 18038146 IBIS 197 / 7739
154
 (HPO:0012384) Rhinitis 18038146 IBIS 18 / 7739
155
 (HPO:0002069) Generalized tonic-clonic seizures 18038146 IBIS 96 / 7739
156
 (HPO:0000546) Retinal degeneration 18038146 IBIS 61 / 7739
157
 (HPO:0007994) Peripheral visual field loss 18038146 IBIS 13 / 7739
158
 (HPO:0000662) Nyctalopia 18038146 IBIS 92 / 7739
159
 (HPO:0040115) Abnormality of the Eustachian tube 18038146 IBIS 2 / 7739
160
 (HPO:0004452) Abnormality of the middle ear ossicles 18038146 IBIS 26 / 7739
161
 (HPO:0040090) Abnormality of the tympanic membrane 18038146 IBIS 3 / 7739
162
 (HPO:0000405) Conductive hearing impairment 18038146 IBIS 164 / 7739
163
 (HPO:0000752) Hyperactivity 18038146 IBIS 140 / 7739
164
 (HPO:0000718) Aggressive behavior 18038146 IBIS 109 / 7739