|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000158)
|
Macroglossia |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
5
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
7
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
8
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
11
|
(HPO:0001654)
|
Abnormality of the heart valves |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
12
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
13
|
(HPO:0009928)
|
Thick nasal alae |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
14
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
16
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
17
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
18
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0011020)
|
Abnormality of mucopolysaccharide metabolism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0000246)
|
Sinusitis |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
22
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
23
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
24
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
25
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
26
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
27
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
28
|
(HPO:0000884)
|
Prominent sternum |
|
|
|
|
11 / 7739
|
|
29
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
30
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
31
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
32
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
33
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
34
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
35
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
36
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
37
|
(HPO:0002318)
|
Cervical myelopathy |
|
|
|
|
10 / 7739
|
|
38
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
39
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
40
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
41
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
|
42
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
43
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
44
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
45
|
(HPO:0003274)
|
Hypoplastic acetabulae |
|
|
|
|
7 / 7739
|
|
46
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
47
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
48
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
49
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
50
|
(HPO:0008301)
|
Dermatan sulfate excretion in urine |
|
|
|
|
8 / 7739
|
|
51
|
(HPO:0008432)
|
Anterior wedging of L1 |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0011941)
|
Anterior wedging of L2 |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Adult height 110-140 cm |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Growth arrest at 2-4 years of age |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Mildly coarse facies |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Thickened lips |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Infantile cardiomyopathy |
|
|
|
|
3 / 7739
|
|
58
|
(OMIM)
|
Large omega-shaped sella |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Anterior wedging of L1 and L2 |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Small, flared iliac wings |
|
|
|
|
2 / 7739
|
|
61
|
(OMIM)
|
Aseptic necrosis of femoral head |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Broad, irregular metaphyses |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Hirsutism, mild |
|
|
|
|
2 / 7739
|
|
64
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
65
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
|
|
|
|
16 / 7739
|
|
66
|
(OMIM)
|
Arylsulfatase B deficiency in fibroblasts and white blood cells |
|
|
|
|
1 / 7739
|
|
67
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
68
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
69
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
70
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
71
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
72
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
73
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|