Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
5
 (HPO:0001840) Metatarsus adductus 49 / 7739
6
 (HPO:0001789) Hydrops fetalis Frequent [Orphanet] 63 / 7739
7
 (HPO:0000023) Inguinal hernia 181 / 7739
8
 (HPO:0010655) Epiphyseal stippling Frequent [Orphanet] 32 / 7739
9
 (HPO:0100625) Enlarged thorax Occasional [Orphanet] 15 / 7739
10
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
11
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
12
 (HPO:0007957) Corneal opacity 84 / 7739
13
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
14
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
15
 (HPO:0002103) Abnormality of the pleura Very frequent [Orphanet] 58 / 7739
16
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
17
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
18
 (HPO:0001541) Ascites Very frequent [Orphanet] 94 / 7739
19
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
20
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
21
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
22
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Frequent [Orphanet] 17 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
27
 (HPO:0000238) Hydrocephalus 278 / 7739
28
 (HPO:0000256) Macrocephaly 298 / 7739
29
 (HPO:0000365) Hearing impairment 539 / 7739
30
 (HPO:0000768) Pectus carinatum 136 / 7739
31
 (HPO:0000926) Platyspondyly 150 / 7739
32
 (HPO:0000943) Dysostosis multiplex 22 / 7739
33
 (HPO:0001007) Hirsutism 91 / 7739
34
 (HPO:0001371) Flexion contracture 220 / 7739
35
 (HPO:0001654) Abnormality of the heart valves 49 / 7739
36
 (HPO:0002180) Neurodegeneration 31 / 7739
37
 (HPO:0002240) Hepatomegaly 467 / 7739
38
 (HPO:0002680) J-shaped sella turcica 15 / 7739
39
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
40
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
41
 (HPO:0003541) Urinary glycosaminoglycan excretion 6 / 7739
42
 (HPO:0004607) Anterior beaking of lower thoracic vertebrae 1 / 7739
43
 (HPO:0005619) Thoracolumbar kyphosis 8 / 7739
44
 (HPO:0006119) Proximal tapering of metacarpals 3 / 7739
45
 (HPO:0008301) Dermatan sulfate excretion in urine 8 / 7739
46
 (HPO:0008430) Anterior beaking of lumbar vertebrae 5 / 7739
47
 (HPO:0008807) Acetabular dysplasia 6 / 7739
48
 (HPO:0008897) Postnatal growth retardation 113 / 7739
49
 (OMIM) Variable degree of corneal opacities 1 / 7739
50
 (OMIM) Flaring of lower ribs 1 / 7739
51
 (OMIM) Dyostosis multiplex 1 / 7739
52
 (OMIM) Anterior beaking of lower thoracic and lumbar vertebrae 1 / 7739
53
 (OMIM) Beta-glucuronidase deficiency in fibroblasts and leukocytes 1 / 7739
54
 (OMIM) Dermatan and heparan sulfate excretion in urine 2 / 7739
55
 (OMIM) Coarse metachromatic granules in white blood cells 1 / 7739
56
 (OMIM) Chondroitin 4-, 6-sulfate excretion in urine 1 / 7739
57
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
58
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
59
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
60
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
61
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739