Symptom Information: Sort according to HPO 

1
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [IBIS] Very frequent [Orphanet] 23531928; 22074387 IBIS 17 / 7739
2
 (HPO:0000280) Coarse facial features Frequent [IBIS] Very frequent [Orphanet] 24675674; 19117856; 813180; 25134498; 23531928; 22074387; 3922223 IBIS 189 / 7739
3
 (HPO:0000158) Macroglossia Frequent [IBIS] Frequent [Orphanet] 24675674; 19117856; 813180; 25134498; 23531928; 22074387; 3922223 IBIS 119 / 7739
4
 (HPO:0000943) Dysostosis multiplex Frequent [IBIS] 24675674; 19117856; 813180; 25134498; 22074387; 3922223 IBIS 22 / 7739
5
 (HPO:0001654) Abnormality of the heart valves Frequent [IBIS] Very frequent [Orphanet] 24675674; 19117856 IBIS 49 / 7739
6
 (HPO:0002240) Hepatomegaly Frequent [IBIS] Very frequent [Orphanet] 24675674 IBIS 467 / 7739
7
 (HPO:0002360) Sleep disturbance Frequent [IBIS] Frequent [Orphanet] 24675674 IBIS 113 / 7739
8
 (HPO:0001744) Splenomegaly Frequent [IBIS] Very frequent [Orphanet] 24675674; 22074387 IBIS 337 / 7739
9
 (HPO:0002828) Multiple joint contractures Frequent [IBIS] 24675674 IBIS 16 / 7739
10
 (HPO:0007957) Corneal opacity Frequent [IBIS] 24675674; 19117856; 813180; 25134498; 23531928; 22074387; 3922223 IBIS 84 / 7739
11
 (HPO:0100790) Hernia Frequent [IBIS] 24675674; 19117856 IBIS 9 / 7739
12
 (HPO:0002808) Kyphosis Frequent [IBIS] 24675674; 19117856; 813180; 25134498 IBIS 289 / 7739
13
 (MedDRA:10041235) Snoring Frequent [IBIS] 24675674; 19117856 IBIS 8 / 7739
14
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 24675674 IBIS 230 / 7739
15
 (HPO:0002650) Scoliosis Occasional [IBIS] Frequent [Orphanet] 24675674; 19117856; 813180; 25134498 IBIS 705 / 7739
16
 (HPO:0100765) Abnormality of the tonsils Occasional [IBIS] Very frequent [Orphanet] 24675674; 19117856; 22074387 IBIS 10 / 7739
17
 (OMIM) Enlarged tonsils Occasional [IBIS] 24675674 IBIS 3 / 7739
18
 (MedDRA:10007697) Carpal tunnel syndrome Occasional [IBIS] 24675674 IBIS 16 / 7739
19
 (HPO:0001638) Cardiomyopathy Occasional [IBIS] Very frequent [Orphanet] 24675674; 19117856; 813180; 25134498 IBIS 192 / 7739
20
 (HPO:0002196) Myelopathy Occasional [IBIS] 24675674 IBIS 6 / 7739
21
 (HPO:0002099) Asthma Occasional [IBIS] 24675674; 19117856 IBIS 62 / 7739
22
 (HPO:0001385) Hip dysplasia Occasional [IBIS] 24675674; 19117856 IBIS 242 / 7739
23
 (HPO:0002857) Genu valgum Occasional [IBIS] 24675674; 19117856; 813180 IBIS 144 / 7739
24
 (HPO:0001761) Pes cavus Occasional [IBIS] 24675674 IBIS 225 / 7739
25
 (HPO:0000501) Glaucoma Rare [IBIS] Frequent [Orphanet] 24675674; 19117856 IBIS 180 / 7739
26
 (HPO:0001635) Congestive heart failure Rare [IBIS] 24675674; 19117856 IBIS 232 / 7739
27
 (HPO:0001648) Cor pulmonale Rare [IBIS] 24675674; 19117856 IBIS 16 / 7739
28
 (HPO:0040083) Toe walking Rare [IBIS] 24675674 IBIS 15 / 7739
29
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 24675674; 19117856; 22074387 IBIS 322 / 7739
30
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 25134498 IBIS 96 / 7739
31
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 3922223 IBIS 290 / 7739
32
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 25134498 IBIS 41 / 7739
33
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 813180; 25134498; 23531928 IBIS 381 / 7739
34
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 25134498; 25134498; 22074387 IBIS 113 / 7739
35
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 813180 IBIS 305 / 7739
36
 (HPO:0000822) Hypertension Frequent [Orphanet] 19117856 IBIS 224 / 7739
37
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 25134498 IBIS 119 / 7739
38
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 25134498 IBIS 172 / 7739
39
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 3922223 IBIS 366 / 7739
40
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 813180; 22074387 IBIS 144 / 7739
41
 (HPO:0001007) Hirsutism 813180 IBIS 91 / 7739
42
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 25134498 IBIS 278 / 7739
43
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 19117856; 813180; 22074387 IBIS 176 / 7739
44
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 19117856 IBIS 114 / 7739
45
 (HPO:0000470) Short neck Very frequent [Orphanet] 25134498; 22074387; 3922223 IBIS 345 / 7739
46
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 19117856 IBIS 539 / 7739
47
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 19117856; 23531928; 3922223 IBIS 254 / 7739
48
 (HPO:0004322) Short stature Frequent [Orphanet] 24675674; 19117856; 813180; 25134498; 22074387 IBIS 1232 / 7739
49
 (HPO:0001249) Intellectual disability 813180; 25134498; 3922223 IBIS 1089 / 7739
50
 (HPO:0000023) Inguinal hernia 19117856; 813180 IBIS 181 / 7739
51
 (HPO:0000212) Gingival overgrowth 813180; 25134498 IBIS 43 / 7739
52
 (HPO:0000256) Macrocephaly 19117856; 25134498; 22074387; 3922223 IBIS 298 / 7739
53
 (HPO:0000546) Retinal degeneration 19117856 IBIS 61 / 7739
54
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 813180; 25134498 IBIS 146 / 7739
55
 (HPO:0001371) Flexion contracture 24675674 IBIS 220 / 7739
56
 (HPO:0001537) Umbilical hernia 19117856; 813180; 22074387; 3922223 IBIS 206 / 7739
57
 (HPO:0001653) Mitral regurgitation 19117856; 22074387 IBIS 64 / 7739
58
 (HPO:0001659) Aortic regurgitation 19117856; 813180 IBIS 36 / 7739
59
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 19117856 IBIS 58 / 7739
60
 (HPO:0002673) Coxa valga 813180; 25134498; 22074387 IBIS 57 / 7739
61
 (HPO:0002680) J-shaped sella turcica 813180 IBIS 15 / 7739
62
 (HPO:0002869) Flared iliac wings 813180; 25134498 IBIS 20 / 7739
63
 (HPO:0003311) Hypoplasia of the odontoid process 23531928 IBIS 34 / 7739
64
 (HPO:0001171) Split hand 23531928 IBIS 72 / 7739
65
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 813180; 25134498; 22074387; 3922223 IBIS 115 / 7739
66
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 25134498 IBIS 123 / 7739
67
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 22074387 IBIS 492 / 7739
68
 (HPO:0011344) Severe global developmental delay 24675674 IBIS 46 / 7739
69
 (HPO:0001268) Mental deterioration 24675674 IBIS 88 / 7739
70
 (HPO:0001376) Limitation of joint mobility 19117856; 813180; 25134498; 3922223; 3922223 IBIS 27 / 7739
71
 (HPO:0000403) Recurrent otitis media 19117856; 813180 IBIS 61 / 7739
72
 (HPO:0008454) Lumbar kyphosis 19117856; 25134498; 3922223 IBIS 3 / 7739
73
 (HPO:0004371) Abnormality of glycosaminoglycan metabolism 19117856 IBIS 3 / 7739
74
 (HPO:0003541) Urinary glycosaminoglycan excretion 19117856; 813180 IBIS 6 / 7739
75
 (HPO:0001263) Global developmental delay 19117856; 813180; 25134498; 22074387 IBIS 853 / 7739
76
 (HPO:0002463) Language impairment 19117856 IBIS 15 / 7739
77
 (HPO:0000708) Behavioral abnormality 19117856 IBIS 212 / 7739
78
 (HPO:0001334) Communicating hydrocephalus 19117856 IBIS 32 / 7739
79
 (HPO:0000496) Abnormality of eye movement 19117856 IBIS 79 / 7739
80
 (HPO:0000572) Visual loss 19117856 IBIS 272 / 7739
81
 (HPO:0003308) Cervical subluxation 19117856 IBIS 6 / 7739
82
 (HPO:0002257) Chronic rhinitis 19117856 IBIS 10 / 7739
83
 (HPO:0000405) Conductive hearing impairment 19117856 IBIS 164 / 7739
84
 (HPO:0000407) Sensorineural hearing impairment 19117856 IBIS 524 / 7739
85
 (HPO:0004452) Abnormality of the middle ear ossicles 19117856 IBIS 26 / 7739
86
 (HPO:0040090) Abnormality of the tympanic membrane 19117856 IBIS 3 / 7739
87
 (HPO:0000529) Progressive visual loss 19117856; 813180 IBIS 54 / 7739
88
 (HPO:0007994) Peripheral visual field loss 19117856 IBIS 13 / 7739
89
 (HPO:0000662) Nyctalopia 19117856 IBIS 92 / 7739
90
 (HPO:0002093) Respiratory insufficiency 19117856 IBIS 410 / 7739
91
 (HPO:0002091) Restrictive ventilatory defect 19117856 IBIS 46 / 7739
92
 (HPO:0002870) Obstructive sleep apnea 19117856 IBIS 16 / 7739
93
 (HPO:0040261) Increased size of nasopharyngeal adenoids 19117856 IBIS 4 / 7739
94
 (HPO:0002777) Tracheal stenosis 19117856 IBIS 35 / 7739
95
 (HPO:0001433) Hepatosplenomegaly 19117856; 813180; 25134498; 22074387; 3922223 IBIS 78 / 7739
96
 (HPO:0011675) Arrhythmia 19117856 IBIS 226 / 7739
97
 (HPO:0001658) Myocardial infarction 19117856 IBIS 30 / 7739
98
 (HPO:0001633) Abnormality of the mitral valve 19117856; 25134498; 22074387 IBIS 69 / 7739
99
 (HPO:0001646) Abnormality of the aortic valve 19117856; 25134498 IBIS 55 / 7739
100
 (HPO:0002751) Kyphoscoliosis 19117856 IBIS 131 / 7739
101
 (HPO:0030043) Hip Subluxation 19117856; 25134498 IBIS 9 / 7739
102
 (HPO:0003040) Arthropathy 19117856 IBIS 19 / 7739
103
 (HPO:0003418) Back pain 19117856 IBIS 17 / 7739
104
 (HPO:0000938) Osteopenia 19117856; 25134498 IBIS 138 / 7739
105
 (HPO:0000168) Abnormality of the gingiva 19117856 IBIS 51 / 7739
106
 (HPO:0000164) Abnormality of the teeth 19117856; 813180; 22074387 IBIS 291 / 7739
107
 (HPO:0000682) Abnormality of dental enamel 19117856; 25134498 IBIS 102 / 7739
108
 (HPO:0000670) Carious teeth 19117856 IBIS 145 / 7739
109
 (HPO:0002019) Constipation 19117856 IBIS 194 / 7739
110
 (HPO:0002014) Diarrhea 19117856 IBIS 225 / 7739
111
 (HPO:0002027) Abdominal pain 19117856 IBIS 184 / 7739
112
 (HPO:0100490) Camptodactyly of finger 813180 IBIS 212 / 7739
113
 (HPO:0001051) Seborrheic dermatitis 813180 IBIS 25 / 7739
114
 (HPO:0000664) Synophrys 813180; 3922223 IBIS 112 / 7739
115
 (HPO:0002230) Generalized hirsutism 813180 IBIS 32 / 7739
116
 (HPO:0002694) Sclerosis of skull base 813180 IBIS 10 / 7739
117
 (HPO:0004442) Sagittal craniosynostosis 813180 IBIS 16 / 7739
118
 (HPO:0004052) Delayed ossification of the hand bones 813180 IBIS 1 / 7739
119
 (HPO:0009769) Bullet-shaped phalanges of the hand 813180; 25134498 IBIS 2 / 7739
120
 (HPO:0006119) Proximal tapering of metacarpals 813180 IBIS 3 / 7739
121
 (HPO:0006371) Broad long bone diaphyses 813180 IBIS 2 / 7739
122
 (HPO:0004621) Enlarged vertebral pedicles 813180 IBIS 2 / 7739
123
 (HPO:0006429) Broad femoral neck 813180 IBIS 18 / 7739
124
 (HPO:0011968) Feeding difficulties 813180 IBIS 240 / 7739
125
 (HPO:0002301) Hemiplegia 813180 IBIS 42 / 7739
126
 (HPO:0001730) Progressive hearing impairment 813180; 23531928 IBIS 29 / 7739
127
 (HPO:0002315) Headache 813180 IBIS 175 / 7739
128
 (HPO:0000316) Hypertelorism 813180; 25134498 IBIS 644 / 7739
129
 (HPO:0003020) Enlargement of the wrists 813180 IBIS 9 / 7739
130
 (HPO:0001640) Cardiomegaly 813180; 22074387 IBIS 81 / 7739
131
 (HPO:0011220) Prominent forehead 813180; 25134498 IBIS 137 / 7739
132
 (HPO:0000520) Proptosis 813180 IBIS 192 / 7739
133
 (HPO:0000577) Exotropia 813180; 3922223 IBIS 43 / 7739
134
 (HPO:0030148) Heart murmur 813180; 3922223 IBIS 29 / 7739
135
 (HPO:0002084) Encephalocele 813180 IBIS 70 / 7739
136
 (MedDRA:10000007) 17 ketosteroids urine decreased 813180 IBIS 1 / 7739
137
 (HPO:0002737) Thick skull base 813180 IBIS 3 / 7739
138
 (HPO:0002684) Thickened calvaria 813180; 25134498 IBIS 32 / 7739
139
 (HPO:0002690) Large sella turcica 813180 IBIS 12 / 7739
140
 (HPO:0002013) Vomiting 813180 IBIS 191 / 7739
141
 (HPO:0005198) Stiff interphalangeal joints 813180 IBIS 2 / 7739
142
 (HPO:0001712) Left ventricular hypertrophy 813180 IBIS 76 / 7739
143
 (HPO:0001540) Diastasis recti 813180 IBIS 23 / 7739
144
 (HPO:0001072) Thickened skin 813180 IBIS 87 / 7739
145
 (HPO:0001840) Metatarsus adductus 813180 IBIS 49 / 7739
146
 (HPO:0002090) Pneumonia 813180 IBIS 59 / 7739
147
 (HPO:0001987) Hyperammonemia 813180 IBIS 50 / 7739
148
 (HPO:0002910) Elevated hepatic transaminases 813180 IBIS 158 / 7739
149
 (HPO:0002812) Coxa vara 813180 IBIS 58 / 7739
150
 (HPO:0002788) Recurrent upper respiratory tract infections 813180 IBIS 31 / 7739
151
 (HPO:0000904) Flaring of rib cage 813180 IBIS 4 / 7739
152
 (HPO:0002938) Lumbar hyperlordosis 813180 IBIS 73 / 7739
153
 (HPO:0003778) Short mandibular rami 25134498 IBIS 7 / 7739
154
 (HPO:0002705) High, narrow palate 25134498 IBIS 308 / 7739
155
 (HPO:0000698) Conical tooth 25134498 IBIS 14 / 7739
156
 (HPO:0000687) Widely spaced teeth 25134498; 3922223 IBIS 40 / 7739
157
 (HPO:0000685) Hypoplasia of teeth 25134498 IBIS 12 / 7739
158
 (HPO:0000684) Delayed eruption of teeth 25134498 IBIS 117 / 7739
159
 (HPO:0000768) Pectus carinatum 25134498 IBIS 136 / 7739
160
 (HPO:0003698) Difficulty standing 25134498 IBIS 8 / 7739
161
 (OMIM) Inability to stand 25134498 IBIS 2 / 7739
162
 (HPO:0002540) Inability to walk 25134498 IBIS 19 / 7739
163
 (HPO:0000980) Pallor 25134498 IBIS 52 / 7739
164
 (HPO:0000958) Dry skin 25134498 IBIS 152 / 7739
165
 (HPO:0000951) Abnormality of the skin 25134498 IBIS 147 / 7739
166
 (HPO:0002947) Cervical kyphosis 25134498 IBIS 6 / 7739
167
 (HPO:0002987) Elbow flexion contracture 25134498 IBIS 64 / 7739
168
 (HPO:0005922) Abnormal hand morphology 25134498 IBIS 6 / 7739
169
 (HPO:0003202) Skeletal muscle atrophy 25134498 IBIS 281 / 7739
170
 (HPO:0000907) Anterior rib cupping 25134498 IBIS 12 / 7739
171
 (HPO:0000884) Prominent sternum 25134498 IBIS 11 / 7739
172
 (HPO:0003871) Deformed humerus 25134498 IBIS 1 / 7739
173
 (HPO:0000946) Hypoplastic ilia 25134498 IBIS 21 / 7739
174
 (HPO:0100865) Broad ischia 25134498 IBIS 4 / 7739
175
 (HPO:0003172) Abnormality of the pubic bone 25134498 IBIS 5 / 7739
176
 (HPO:0003015) Flared metaphysis 25134498 IBIS 44 / 7739
177
 (HPO:0001216) Delayed ossification of carpal bones 25134498 IBIS 30 / 7739
178
 (HPO:0008103) Delayed tarsal ossification 25134498 IBIS 3 / 7739
179
 (HPO:0000336) Prominent supraorbital ridges 25134498 IBIS 45 / 7739
180
 (HPO:0000454) Flared nostrils 25134498 IBIS 11 / 7739
181
 (HPO:0010307) Stridor 25134498 IBIS 19 / 7739
182
 (HPO:0100540) Palpebral edema 25134498 IBIS 31 / 7739
183
 (HPO:0000527) Long eyelashes 25134498 IBIS 46 / 7739
184
 (HPO:0009748) Large earlobe 25134498 IBIS 27 / 7739
185
 (HPO:0000154) Wide mouth 25134498 IBIS 137 / 7739
186
 (HPO:0000343) Long philtrum 25134498 IBIS 262 / 7739
187
 (HPO:0001999) Abnormal facial shape 25134498; 22074387 IBIS 169 / 7739
188
 (HPO:0010808) Protruding tongue 25134498 IBIS 28 / 7739
189
 (HPO:0200095) Anterior open bite 25134498 IBIS 8 / 7739
190
 (HPO:0011080) Abnormality of premolar morphology 25134498 IBIS 1 / 7739
191
 (HPO:0007628) Mandibular condyle hypoplasia 25134498 IBIS 4 / 7739
192
 (HPO:0000347) Micrognathia 25134498 IBIS 426 / 7739
193
 (HPO:3000003) Abnormality of mandibular ramus 25134498 IBIS 1 / 7739
194
 (HPO:3000078) Abnormality of mandible coronoid process 25134498 IBIS 1 / 7739
195
 (HPO:0000929) Abnormality of the skull 25134498 IBIS 53 / 7739
196
 (HPO:0001363) Craniosynostosis 25134498 IBIS 132 / 7739
197
 (HPO:0000586) Shallow orbits 25134498 IBIS 23 / 7739
198
 (HPO:0005462) Calcification of falx cerebri 25134498 IBIS 6 / 7739
199
 (HPO:0002187) Intellectual disability, profound 23531928 IBIS 44 / 7739
200
 (HPO:0000998) Hypertrichosis 23531928 IBIS 52 / 7739
201
 (HPO:0002318) Cervical myelopathy 23531928 IBIS 10 / 7739
202
 (HPO:0008434) Hypoplastic cervical vertebrae 23531928 IBIS 4 / 7739
203
 (HPO:0003414) Atlantoaxial dislocation 23531928 IBIS 5 / 7739
204
 (HPO:0004568) Beaking of vertebral bodies 23531928 IBIS 19 / 7739
205
 (HPO:0004356) Abnormality of lysosomal metabolism 23531928; 22074387 IBIS 6 / 7739
206
 (HPO:0001626) Abnormality of the cardiovascular system 22074387 IBIS 73 / 7739
207
 (HPO:0002086) Abnormality of the respiratory system 22074387 IBIS 17 / 7739
208
 (HPO:0003819) Death in childhood 22074387 IBIS 42 / 7739
209
 (HPO:0008301) Dermatan sulfate excretion in urine 813180; 3922223 IBIS 8 / 7739
210
 (HPO:0002159) Heparan sulfate excretion in urine 813180; 3922223 IBIS 12 / 7739
211
 (HPO:0000750) Delayed speech and language development 22074387 IBIS 197 / 7739
212
 (HPO:0011729) Abnormality of joint mobility 22074387 IBIS 2 / 7739
213
 (HPO:0001131) Corneal dystrophy 22074387 IBIS 56 / 7739
214
 (HPO:0002094) Dyspnea 22074387 IBIS 132 / 7739
215
 (HPO:0002245) Meckel diverticulum 3922223 IBIS 12 / 7739
216
 (HPO:0012384) Rhinitis 3922223 IBIS 18 / 7739
217
 (HPO:0000230) Gingivitis 3922223 IBIS 31 / 7739
218
 (HPO:0003423) Thoracolumbar kyphoscoliosis 3922223 IBIS 4 / 7739
219
 (HPO:0001538) Protuberant abdomen 3922223 IBIS 36 / 7739
220
 (HPO:0000445) Wide nose 3922223 IBIS 190 / 7739