1
|
(HPO:0011020)
|
Abnormality of mucopolysaccharide metabolism |
Very frequent [IBIS]
|
|
18038146
|
IBIS
|
17 / 7739
|
2
|
(HPO:0004872)
|
Incisional hernia |
Rare [IBIS]
|
|
6816147
|
IBIS
|
2 / 7739
|
3
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
23209998
|
IBIS
|
141 / 7739
|
4
|
(HPO:0001288)
|
Gait disturbance |
|
|
23209998; 6816147
|
IBIS
|
318 / 7739
|
5
|
(HPO:0000768)
|
Pectus carinatum |
|
|
23209998
|
IBIS
|
136 / 7739
|
6
|
(HPO:0009381)
|
Short finger |
|
|
23209998; 6816147
|
IBIS
|
45 / 7739
|
7
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
23209998
|
IBIS
|
53 / 7739
|
8
|
(HPO:0010823)
|
Ridged cranial sutures |
|
|
23209998
|
IBIS
|
1 / 7739
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
23209998
|
IBIS
|
290 / 7739
|
10
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
23209998; 6816147
|
IBIS
|
40 / 7739
|
11
|
(HPO:0000020)
|
Urinary incontinence |
|
|
23209998
|
IBIS
|
75 / 7739
|
12
|
(HPO:0002607)
|
Bowel incontinence |
|
|
23209998
|
IBIS
|
33 / 7739
|
13
|
(HPO:0001239)
|
Wrist flexion contracture |
|
|
23209998
|
IBIS
|
13 / 7739
|
14
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
23209998
|
IBIS
|
147 / 7739
|
15
|
(HPO:0002474)
|
Expressive language delay |
|
|
23209998
|
IBIS
|
8 / 7739
|
16
|
(HPO:0004302)
|
Functional motor problems |
|
|
23209998
|
IBIS
|
2 / 7739
|
17
|
(HPO:0000280)
|
Coarse facial features |
|
|
23209998
|
IBIS
|
189 / 7739
|
18
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
23209998
|
IBIS
|
40 / 7739
|
19
|
(HPO:0002007)
|
Frontal bossing |
|
|
23209998
|
IBIS
|
366 / 7739
|
20
|
(HPO:0000470)
|
Short neck |
|
|
23209998
|
IBIS
|
345 / 7739
|
21
|
(HPO:0000256)
|
Macrocephaly |
|
|
23209998; 6816147
|
IBIS
|
298 / 7739
|
22
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
23209998; 6816147
|
IBIS
|
36 / 7739
|
23
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
23209998; 11015461
|
IBIS
|
113 / 7739
|
24
|
(HPO:0001072)
|
Thickened skin |
|
|
23209998
|
IBIS
|
87 / 7739
|
25
|
(HPO:0002240)
|
Hepatomegaly |
|
|
18245410; 11015461
|
IBIS
|
467 / 7739
|
26
|
(HPO:0002159)
|
Heparan sulfate excretion in urine |
|
|
11015461
|
IBIS
|
12 / 7739
|
27
|
(HPO:0008301)
|
Dermatan sulfate excretion in urine |
|
|
11015461
|
IBIS
|
8 / 7739
|
28
|
(HPO:0004322)
|
Short stature |
|
|
6816147
|
IBIS
|
1232 / 7739
|
29
|
(HPO:0000023)
|
Inguinal hernia |
|
|
6816147
|
IBIS
|
181 / 7739
|
30
|
(HPO:0001537)
|
Umbilical hernia |
|
|
6816147
|
IBIS
|
206 / 7739
|
31
|
(HPO:0200117)
|
Recurrent upper and lower respiratory tract infections |
|
|
6816147
|
IBIS
|
4 / 7739
|
32
|
(HPO:0006536)
|
Obstructive lung disease |
|
|
6816147
|
IBIS
|
7 / 7739
|
33
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
6816147
|
IBIS
|
524 / 7739
|
34
|
(HPO:0001085)
|
Papilledema |
|
|
6816147
|
IBIS
|
31 / 7739
|
35
|
(HPO:0008155)
|
Mucopolysacchariduria |
|
|
6816147
|
IBIS
|
6 / 7739
|
36
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
6816147
|
IBIS
|
45 / 7739
|
37
|
(HPO:0000448)
|
Prominent nose |
|
|
6816147
|
IBIS
|
56 / 7739
|
38
|
(HPO:0000454)
|
Flared nostrils |
|
|
6816147
|
IBIS
|
11 / 7739
|
39
|
(HPO:0000293)
|
Full cheeks |
|
|
6816147
|
IBIS
|
85 / 7739
|
40
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
6816147
|
IBIS
|
179 / 7739
|
41
|
(HPO:0001007)
|
Hirsutism |
|
|
6816147
|
IBIS
|
91 / 7739
|
42
|
(HPO:0002828)
|
Multiple joint contractures |
|
|
6816147
|
IBIS
|
16 / 7739
|
43
|
(HPO:0001635)
|
Congestive heart failure |
|
|
6816147
|
IBIS
|
232 / 7739
|
44
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
6816147
|
IBIS
|
78 / 7739
|
45
|
(HPO:0001654)
|
Abnormality of the heart valves |
|
|
6816147
|
IBIS
|
49 / 7739
|
46
|
(HPO:0012384)
|
Rhinitis |
|
|
6816147
|
IBIS
|
18 / 7739
|
47
|
(HPO:0011110)
|
Tonsillitis |
|
|
6816147
|
IBIS
|
2 / 7739
|
48
|
(MedDRA:10023874)
|
Laryngitis |
|
|
6816147
|
IBIS
|
2 / 7739
|
49
|
(HPO:0000388)
|
Otitis media |
|
|
6816147
|
IBIS
|
28 / 7739
|
50
|
(HPO:0006596)
|
Restricted chest movement |
|
|
6816147
|
IBIS
|
2 / 7739
|
51
|
(HPO:0001609)
|
Hoarse voice |
|
|
6816147
|
IBIS
|
34 / 7739
|
52
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
6816147
|
IBIS
|
164 / 7739
|
53
|
(MedDRA:10015543)
|
Eustachian tube dysfunction |
|
|
6816147
|
IBIS
|
1 / 7739
|
54
|
(HPO:0040115)
|
Abnormality of the Eustachian tube |
|
|
6816147
|
IBIS
|
2 / 7739
|
55
|
(HPO:3000033)
|
Abnormality of nasopharyngeal adenoids |
|
|
6816147
|
IBIS
|
4 / 7739
|
56
|
(MedDRA:10001229)
|
Adenoidal hypertrophy |
|
|
6816147
|
IBIS
|
3 / 7739
|
57
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
|
|
6816147
|
IBIS
|
16 / 7739
|
58
|
(HPO:0002758)
|
Osteoarthritis |
|
|
6816147
|
IBIS
|
78 / 7739
|
59
|
(HPO:0005619)
|
Thoracolumbar kyphosis |
|
|
6816147
|
IBIS
|
8 / 7739
|
60
|
(HPO:0003393)
|
Thenar muscle atrophy |
|
|
6816147
|
IBIS
|
10 / 7739
|
61
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
6816147
|
IBIS
|
73 / 7739
|