|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
7
|
(HPO:0000683)
|
Grayish enamel |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0000884)
|
Prominent sternum |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0000904)
|
Flaring of rib cage |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
12
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
13
|
(HPO:0001223)
|
Pointed proximal second through fifth metacarpals |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
15
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
16
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
18
|
(HPO:0002318)
|
Cervical myelopathy |
|
|
|
|
10 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
21
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
23
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
24
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
25
|
(HPO:0003049)
|
Ulnar deviation of the wrist |
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0003053)
|
Epiphyseal deformities of tubular bones |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0003277)
|
Constricted iliac wings |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
29
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
30
|
(HPO:0003308)
|
Cervical subluxation |
|
|
|
|
6 / 7739
|
|
31
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
32
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
33
|
(HPO:0005292)
|
Intimal thickening in the coronary arteries |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
35
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
36
|
(HPO:0008166)
|
Decreased beta-galactosidase activity |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0012069)
|
Keratan sulfate excretion in urine |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Adult height 82-115 cm |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Mildly coarse facial features |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Valvular heart disease Aortic valve stenosis |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Hepatomegaly, mild |
|
|
|
|
8 / 7739
|
|
42
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
43
|
(OMIM)
|
Keratan sulfate excretion in urine that decreases with age |
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|