Symptom Information: Sort according to HPO 

1
 (HPO:0000943) Dysostosis multiplex Frequent [IBIS] 24675674; 19117856; 813180; 119701; 3922223; 6433708 IBIS 22 / 7739
2
 (HPO:0000280) Coarse facial features Frequent [IBIS] Very frequent [Orphanet] 24675674; 119701; 3922223; 11131359 IBIS 189 / 7739
3
 (HPO:0001654) Abnormality of the heart valves Frequent [IBIS] Very frequent [Orphanet] 24675674 IBIS 49 / 7739
4
 (HPO:0001744) Splenomegaly Frequent [IBIS] Very frequent [Orphanet] 24675674; 119701; 6433708 IBIS 337 / 7739
5
 (HPO:0002240) Hepatomegaly Frequent [IBIS] Very frequent [Orphanet] 24675674; 119701; 2512446 IBIS 467 / 7739
6
 (HPO:0007957) Corneal opacity Frequent [IBIS] 24675674; 19117856; 811694; 813180; 119701; 3922223; 6433708; 11131359 IBIS 84 / 7739
7
 (HPO:0100765) Abnormality of the tonsils Frequent [IBIS] Very frequent [Orphanet] 24675674; 19117856; 6433708 IBIS 10 / 7739
8
 (HPO:0002808) Kyphosis Frequent [IBIS] 24675674; 19117856 IBIS 289 / 7739
9
 (HPO:0100790) Hernia Frequent [IBIS] 24675674; 813180 IBIS 9 / 7739
10
 (HPO:0002828) Multiple joint contractures Frequent [IBIS] 24675674 IBIS 16 / 7739
11
 (HPO:0002360) Sleep disturbance Frequent [IBIS] 24675674 IBIS 113 / 7739
12
 (MedDRA:10041235) Snoring Frequent [IBIS] 24675674; 19117856 IBIS 8 / 7739
13
 (HPO:0000158) Macroglossia Frequent [IBIS] 24675674; 19117856; 3922223; 11131359 IBIS 119 / 7739
14
 (OMIM) Enlarged tonsils Frequent [IBIS] 24675674 IBIS 3 / 7739
15
 (HPO:0002650) Scoliosis Occasional [IBIS] 24675674; 19117856 IBIS 705 / 7739
16
 (HPO:0001638) Cardiomyopathy Occasional [IBIS] Occasional [Orphanet] 24675674 IBIS 192 / 7739
17
 (MedDRA:10007697) Carpal tunnel syndrome Occasional [IBIS] 24675674 IBIS 16 / 7739
18
 (HPO:0100543) Cognitive impairment Occasional [IBIS] 24675674 IBIS 230 / 7739
19
 (HPO:0001385) Hip dysplasia Occasional [IBIS] 24675674; 19117856 IBIS 242 / 7739
20
 (HPO:0002196) Myelopathy Occasional [IBIS] 24675674 IBIS 6 / 7739
21
 (HPO:0002099) Asthma Occasional [IBIS] 24675674; 19117856 IBIS 62 / 7739
22
 (HPO:0002857) Genu valgum Occasional [IBIS] 24675674; 19117856; 2512446 IBIS 144 / 7739
23
 (HPO:0001761) Pes cavus Occasional [IBIS] 24675674 IBIS 225 / 7739
24
 (HPO:0040083) Toe walking Occasional [IBIS] 24675674 IBIS 15 / 7739
25
 (HPO:0000501) Glaucoma Rare [IBIS] 24675674; 19117856 IBIS 180 / 7739
26
 (HPO:0001635) Congestive heart failure Rare [IBIS] 24675674; 811694 IBIS 232 / 7739
27
 (HPO:0001648) Cor pulmonale Rare [IBIS] 24675674 IBIS 16 / 7739
28
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 19117856; 2512446; 3922223; 6433708 IBIS 322 / 7739
29
 (HPO:0001007) Hirsutism 813180 IBIS 91 / 7739
30
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 119701; 3922223 IBIS 172 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 19117856; 813180; 119701; 2512446; 3922223 IBIS 1232 / 7739
32
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 19117856; 811694; 23917744; 119701; 2512446; 3922223; 6433708 IBIS 176 / 7739
33
 (HPO:0000347) Micrognathia 6433708 IBIS 426 / 7739
34
 (HPO:0001537) Umbilical hernia 19117856; 811694; 23917744; 119701; 2512446; 3922223; 6433708; 11131359 IBIS 206 / 7739
35
 (HPO:0002205) Recurrent respiratory infections 119701; 2512446; 3922223 IBIS 254 / 7739
36
 (HPO:0002777) Tracheal stenosis 19117856 IBIS 35 / 7739
37
 (HPO:0002870) Obstructive sleep apnea 19117856 IBIS 16 / 7739
38
 (HPO:0005280) Depressed nasal bridge 119701 IBIS 381 / 7739
39
 (HPO:0001072) Thickened skin 813180; 3922223 IBIS 87 / 7739
40
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 19117856; 2512446 IBIS 124 / 7739
41
 (HPO:0012471) Thick vermilion border 811694; 119701 IBIS 115 / 7739
42
 (HPO:0004371) Abnormality of glycosaminoglycan metabolism 19117856 IBIS 3 / 7739
43
 (HPO:0003541) Urinary glycosaminoglycan excretion 19117856; 811694 IBIS 6 / 7739
44
 (HPO:0001334) Communicating hydrocephalus 19117856 IBIS 32 / 7739
45
 (HPO:0002315) Headache 19117856 IBIS 175 / 7739
46
 (HPO:0007807) Optic nerve compression 19117856 IBIS 6 / 7739
47
 (HPO:0002176) Spinal cord compression 19117856 IBIS 15 / 7739
48
 (HPO:0008462) Cervical instability 19117856 IBIS 4 / 7739
49
 (HPO:0007340) Lower limb muscle weakness 19117856 IBIS 61 / 7739
50
 (HPO:0001288) Gait disturbance 19117856; 119701 IBIS 318 / 7739
51
 (HPO:0011109) Chronic sinusitis 19117856 IBIS 17 / 7739
52
 (HPO:0000529) Progressive visual loss 19117856 IBIS 54 / 7739
53
 (HPO:0007994) Peripheral visual field loss 19117856 IBIS 13 / 7739
54
 (HPO:0000546) Retinal degeneration 19117856 IBIS 61 / 7739
55
 (HPO:0000662) Nyctalopia 19117856; 119701 IBIS 92 / 7739
56
 (HPO:0002093) Respiratory insufficiency 19117856 IBIS 410 / 7739
57
 (HPO:0002091) Restrictive ventilatory defect 19117856 IBIS 46 / 7739
58
 (HPO:0040261) Increased size of nasopharyngeal adenoids 19117856 IBIS 4 / 7739
59
 (HPO:0001433) Hepatosplenomegaly 19117856; 811694; 813180; 119701; 3922223; 6433708 IBIS 78 / 7739
60
 (HPO:0002751) Kyphoscoliosis 19117856; 811694; 11131359 IBIS 131 / 7739
61
 (HPO:0030043) Hip Subluxation 19117856 IBIS 9 / 7739
62
 (HPO:0003040) Arthropathy 19117856 IBIS 19 / 7739
63
 (HPO:0003418) Back pain 19117856 IBIS 17 / 7739
64
 (HPO:0000938) Osteopenia 19117856 IBIS 138 / 7739
65
 (HPO:0000168) Abnormality of the gingiva 19117856 IBIS 51 / 7739
66
 (HPO:0000164) Abnormality of the teeth 19117856 IBIS 291 / 7739
67
 (HPO:0000682) Abnormality of dental enamel 19117856 IBIS 102 / 7739
68
 (HPO:0000670) Carious teeth 19117856 IBIS 145 / 7739
69
 (HPO:0000023) Inguinal hernia 19117856; 23917744; 119701; 3922223; 6433708 IBIS 181 / 7739
70
 (HPO:0002014) Diarrhea 19117856; 3922223 IBIS 225 / 7739
71
 (HPO:0002019) Constipation 19117856 IBIS 194 / 7739
72
 (HPO:0002027) Abdominal pain 19117856 IBIS 184 / 7739
73
 (HPO:0003510) Severe short stature 811694; 119701; 11131359 IBIS 90 / 7739
74
 (HPO:0006380) Knee flexion contracture 811694; 11131359 IBIS 56 / 7739
75
 (HPO:0100360) Contractures of the joints of the upper limbs 811694 IBIS 3 / 7739
76
 (HPO:0004382) Mitral valve calcification 811694 IBIS 5 / 7739
77
 (HPO:0004380) Aortic valve calcification 811694 IBIS 5 / 7739
78
 (HPO:0001640) Cardiomegaly 811694 IBIS 81 / 7739
79
 (HPO:0012398) Peripheral edema 811694 IBIS 12 / 7739
80
 (HPO:0006482) Abnormality of dental morphology 811694 IBIS 81 / 7739
81
 (HPO:0000962) Hyperkeratosis 811694 IBIS 216 / 7739
82
 (HPO:0001256) Intellectual disability, mild 813180 IBIS 141 / 7739
83
 (HPO:0001376) Limitation of joint mobility 813180; 119701; 3922223; 6433708 IBIS 27 / 7739
84
 (HPO:0002308) Arnold-Chiari malformation 23917744 IBIS 42 / 7739
85
 (HPO:0010537) Wide cranial sutures 23917744; 3922223 IBIS 21 / 7739
86
 (HPO:0005442) Widely patent coronal suture 23917744 IBIS 3 / 7739
87
 (HPO:0000531) Corneal crystals 23917744 IBIS 9 / 7739
88
 (HPO:0002516) Increased intracranial pressure 23917744 IBIS 47 / 7739
89
 (HPO:0001085) Papilledema 23917744 IBIS 31 / 7739
90
 (HPO:0000403) Recurrent otitis media 23917744; 6433708 IBIS 61 / 7739
91
 (HPO:0000268) Dolichocephaly 23917744; 6433708 IBIS 144 / 7739
92
 (HPO:0001363) Craniosynostosis 23917744 IBIS 132 / 7739
93
 (HPO:0004442) Sagittal craniosynostosis 23917744 IBIS 16 / 7739
94
 (HPO:0000256) Macrocephaly 23917744; 6433708 IBIS 298 / 7739
95
 (HPO:0001999) Abnormal facial shape 23917744; 119701; 2512446; 3922223 IBIS 169 / 7739
96
 (HPO:0000691) Microdontia 23917744; 6433708 IBIS 104 / 7739
97
 (HPO:0000687) Widely spaced teeth 23917744; 119701; 6433708 IBIS 40 / 7739
98
 (HPO:0004356) Abnormality of lysosomal metabolism 22074387 IBIS 6 / 7739
99
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism 22074387; 119701 IBIS 17 / 7739
100
 (HPO:0008301) Dermatan sulfate excretion in urine 813180; 119701; 2512446; 3922223 IBIS 8 / 7739
101
 (HPO:0002159) Heparan sulfate excretion in urine 813180; 3922223; 6433708 IBIS 12 / 7739
102
 (HPO:0000463) Anteverted nares 119701 IBIS 305 / 7739
103
 (HPO:0007703) Abnormality of retinal pigmentation 119701 IBIS 21 / 7739
104
 (HPO:0030148) Heart murmur 119701; 6433708 IBIS 29 / 7739
105
 (HPO:0001538) Protuberant abdomen 119701; 11131359 IBIS 36 / 7739
106
 (HPO:0002679) Abnormality of the sella turcica 119701 IBIS 1 / 7739
107
 (HPO:0100712) Abnormality of the lumbar spine 119701; 2512446; 3922223 IBIS 1 / 7739
108
 (HPO:0000900) Thickened ribs 119701 IBIS 9 / 7739
109
 (HPO:0006584) Small abnormally formed scapulae 119701 IBIS 4 / 7739
110
 (HPO:0002866) Hypoplastic iliac wing 119701 IBIS 34 / 7739
111
 (HPO:0002869) Flared iliac wings 119701; 2512446 IBIS 20 / 7739
112
 (HPO:0002673) Coxa valga 119701 IBIS 57 / 7739
113
 (HPO:0002818) Abnormality of the radius 119701 IBIS 96 / 7739
114
 (HPO:0002997) Abnormality of the ulna 119701; 6433708 IBIS 75 / 7739
115
 (HPO:0001498) Carpal bone hypoplasia 119701 IBIS 17 / 7739
116
 (HPO:0001248) Short tubular bones of the hand 119701 IBIS 4 / 7739
117
 (HPO:0005876) Progressive flexion contractures 119701 IBIS 4 / 7739
118
 (HPO:0002829) Arthralgia 119701 IBIS 79 / 7739
119
 (HPO:0100490) Camptodactyly of finger 119701 IBIS 212 / 7739
120
 (HPO:0000389) Chronic otitis media 119701 IBIS 64 / 7739
121
 (HPO:0000365) Hearing impairment 119701; 6433708 IBIS 539 / 7739
122
 (HPO:0003690) Limb muscle weakness 119701 IBIS 41 / 7739
123
 (HPO:0003388) Easy fatigability 2512446 IBIS 34 / 7739
124
 (HPO:0002875) Exertional dyspnea 2512446 IBIS 29 / 7739
125
 (HPO:0008967) Exercise-induced muscle stiffness 2512446 IBIS 6 / 7739
126
 (HPO:0000505) Visual impairment 2512446 IBIS 297 / 7739
127
 (HPO:0001374) Congenital hip dislocation 2512446 IBIS 51 / 7739
128
 (HPO:0002061) Lower limb spasticity 2512446 IBIS 56 / 7739
129
 (HPO:0000316) Hypertelorism 2512446 IBIS 644 / 7739
130
 (HPO:0000470) Short neck 2512446; 3922223; 6433708 IBIS 345 / 7739
131
 (HPO:0000278) Retrognathia 2512446 IBIS 100 / 7739
132
 (HPO:0002225) Sparse pubic hair 2512446 IBIS 76 / 7739
133
 (HPO:0002215) Sparse axillary hair 2512446 IBIS 21 / 7739
134
 (HPO:0001650) Aortic valve stenosis 2512446 IBIS 49 / 7739
135
 (HPO:0000405) Conductive hearing impairment 2512446 IBIS 164 / 7739
136
 (HPO:0002938) Lumbar hyperlordosis 2512446 IBIS 73 / 7739
137
 (HPO:0006467) Limited shoulder movement 2512446 IBIS 3 / 7739
138
 (HPO:0012795) Abnormality of the optic disc 2512446 IBIS 187 / 7739
139
 (HPO:0000772) Abnormality of the ribs 2512446 IBIS 146 / 7739
140
 (HPO:0002691) Platybasia 2512446 IBIS 10 / 7739
141
 (HPO:0003891) Abnormality of the humeral epiphysis 2512446 IBIS 1 / 7739
142
 (HPO:0006499) Abnormality of femoral epiphysis 2512446 IBIS 3 / 7739
143
 (HPO:0011912) Abnormality of the glenoid fossa 2512446 IBIS 1 / 7739
144
 (HPO:0003170) Abnormality of the acetabulum 2512446 IBIS 3 / 7739
145
 (HPO:0004580) Anterior scalloping of vertebral bodies 2512446 IBIS 2 / 7739
146
 (HPO:0005121) Posterior scalloping of vertebral bodies 2512446 IBIS 4 / 7739
147
 (HPO:0006956) Dilation of lateral ventricles 2512446 IBIS 13 / 7739
148
 (HPO:0007082) Dilated third ventricle 2512446 IBIS 3 / 7739
149
 (HPO:0001263) Global developmental delay 3922223 IBIS 853 / 7739
150
 (HPO:0002208) Coarse hair 3922223 IBIS 58 / 7739
151
 (HPO:0001742) Nasal obstruction 3922223 IBIS 5 / 7739
152
 (MedDRA:10028017) Mouth breathing 3922223; 6433708 IBIS 1 / 7739
153
 (HPO:0000498) Blepharitis 3922223 IBIS 27 / 7739
154
 (HPO:0000388) Otitis media 3922223 IBIS 28 / 7739
155
 (HPO:0000914) Shield chest 3922223 IBIS 14 / 7739
156
 (HPO:0001540) Diastasis recti 3922223; 6433708 IBIS 23 / 7739
157
 (HPO:0001249) Intellectual disability 3922223 IBIS 1089 / 7739
158
 (HPO:0000445) Wide nose 3922223 IBIS 190 / 7739
159
 (HPO:0000034) Hydrocele testis 3922223 IBIS 18 / 7739
160
 (HPO:0001270) Motor delay 3922223 IBIS 322 / 7739
161
 (HPO:0002693) Abnormality of the skull base 3922223 IBIS 2 / 7739
162
 (HPO:0000773) Short ribs 3922223 IBIS 70 / 7739
163
 (HPO:0011329) Abnormality of cranial sutures 6433708 IBIS 1 / 7739
164
 (HPO:0011335) Frontal hirsutism 6433708 IBIS 4 / 7739
165
 (HPO:0000664) Synophrys 6433708 IBIS 112 / 7739
166
 (HPO:0004035) Abnormality of the styloid process of ulna 6433708 IBIS 1 / 7739
167
 (HPO:0000520) Proptosis 6433708 IBIS 192 / 7739
168
 (HPO:0000540) Hypermetropia 6433708 IBIS 99 / 7739
169
 (HPO:0007759) Opacification of the corneal stroma 6433708 IBIS 77 / 7739
170
 (HPO:0000483) Astigmatism 6433708 IBIS 67 / 7739
171
 (HPO:0002680) J-shaped sella turcica 6433708 IBIS 15 / 7739
172
 (HPO:0000926) Platyspondyly 6433708 IBIS 150 / 7739
173
 (HPO:0000885) Broad ribs 6433708 IBIS 21 / 7739
174
 (HPO:0000940) Abnormal diaphysis morphology 6433708 IBIS 41 / 7739
175
 (HPO:0005089) Abnormal metaphyseal trabeculation 6433708 IBIS 3 / 7739
176
 (HPO:0001163) Abnormality of the metacarpal bones 6433708 IBIS 149 / 7739
177
 (HPO:0000769) Abnormality of the breast 11131359 IBIS 5 / 7739
178
 (HPO:0000768) Pectus carinatum 11131359 IBIS 136 / 7739
179
 (HPO:0006801) Hyperactive deep tendon reflexes 11131359 IBIS 21 / 7739
180
 (HPO:0012569) Delayed menarche 11131359 IBIS 5 / 7739
181
 (HPO:0002987) Elbow flexion contracture 11131359 IBIS 64 / 7739