1
|
(HPO:0011020)
|
Abnormality of mucopolysaccharide metabolism |
Very frequent [IBIS]
|
|
18038146
|
IBIS
|
17 / 7739
|
2
|
(HPO:0010741)
|
Edema of the lower limbs |
|
|
26633932
|
IBIS
|
34 / 7739
|
3
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
26633932
|
IBIS
|
36 / 7739
|
4
|
(HPO:0002094)
|
Dyspnea |
|
|
26633932
|
IBIS
|
132 / 7739
|
5
|
(HPO:0000271)
|
Abnormality of the face |
|
|
26633932
|
IBIS
|
108 / 7739
|
6
|
(HPO:0011220)
|
Prominent forehead |
|
|
26633932
|
IBIS
|
137 / 7739
|
7
|
(HPO:0000520)
|
Proptosis |
|
|
26633932
|
IBIS
|
192 / 7739
|
8
|
(HPO:0430028)
|
Hyperplasia of the maxilla |
|
|
26633932
|
IBIS
|
1 / 7739
|
9
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
26633932
|
IBIS
|
179 / 7739
|
10
|
(HPO:0001072)
|
Thickened skin |
|
|
26633932
|
IBIS
|
87 / 7739
|
11
|
(MedDRA:10041235)
|
Snoring |
|
|
26633932
|
IBIS
|
8 / 7739
|
12
|
(HPO:0000365)
|
Hearing impairment |
|
|
26633932; 11015461; 9611068; 12572848
|
IBIS
|
539 / 7739
|
13
|
(HPO:0002376)
|
Developmental regression |
|
|
26633932; 18245410; 9611068
|
IBIS
|
74 / 7739
|
14
|
(HPO:0000256)
|
Macrocephaly |
|
|
26633932
|
IBIS
|
298 / 7739
|
15
|
(HPO:0002007)
|
Frontal bossing |
|
|
26633932
|
IBIS
|
366 / 7739
|
16
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
26633932
|
IBIS
|
53 / 7739
|
17
|
(HPO:0000369)
|
Low-set ears |
|
|
26633932
|
IBIS
|
372 / 7739
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
26633932
|
IBIS
|
381 / 7739
|
19
|
(HPO:0000463)
|
Anteverted nares |
|
|
26633932
|
IBIS
|
305 / 7739
|
20
|
(HPO:0010808)
|
Protruding tongue |
|
|
26633932
|
IBIS
|
28 / 7739
|
21
|
(HPO:0000470)
|
Short neck |
|
|
26633932
|
IBIS
|
345 / 7739
|
22
|
(HPO:0011927)
|
Short digit |
|
|
26633932
|
IBIS
|
17 / 7739
|
23
|
(HPO:0011355)
|
Localized skin lesion |
|
|
26633932
|
IBIS
|
3 / 7739
|
24
|
(HPO:0005348)
|
Inspiratory stridor |
|
|
26633932
|
IBIS
|
8 / 7739
|
25
|
(HPO:0000961)
|
Cyanosis |
|
|
26633932
|
IBIS
|
60 / 7739
|
26
|
(MedDRA:10011704)
|
Cyanosis central |
|
|
26633932
|
IBIS
|
1 / 7739
|
27
|
(HPO:0040168)
|
Focal seizures, afebril |
|
|
26633932
|
IBIS
|
6 / 7739
|
28
|
(HPO:0000969)
|
Edema |
|
|
26633932
|
IBIS
|
117 / 7739
|
29
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
26633932
|
IBIS
|
113 / 7739
|
30
|
(HPO:0001387)
|
Joint stiffness |
|
|
26633932; 9611068; 12572848
|
IBIS
|
322 / 7739
|
31
|
(HPO:0001649)
|
Tachycardia |
|
|
26633932
|
IBIS
|
53 / 7739
|
32
|
(HPO:0030148)
|
Heart murmur |
|
|
26633932
|
IBIS
|
29 / 7739
|
33
|
(HPO:0002789)
|
Tachypnea |
|
|
26633932
|
IBIS
|
48 / 7739
|
34
|
(HPO:0001537)
|
Umbilical hernia |
|
|
26633932; 12572848
|
IBIS
|
206 / 7739
|
35
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
26633932; 11015461; 9611068; 12572848; 15797184
|
IBIS
|
78 / 7739
|
36
|
(HPO:0001541)
|
Ascites |
|
|
26633932
|
IBIS
|
94 / 7739
|
37
|
(HPO:0004823)
|
Anisopoikilocytosis |
|
|
26633932
|
IBIS
|
4 / 7739
|
38
|
(HPO:0005518)
|
Erythrocyte macrocytosis |
|
|
26633932
|
IBIS
|
13 / 7739
|
39
|
(HPO:0001931)
|
Hypochromic anemia |
|
|
26633932
|
IBIS
|
5 / 7739
|
40
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
26633932
|
IBIS
|
15 / 7739
|
41
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
26633932
|
IBIS
|
19 / 7739
|
42
|
(HPO:0002945)
|
Intervertebral space narrowing |
|
|
26633932
|
IBIS
|
7 / 7739
|
43
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
26633932
|
IBIS
|
69 / 7739
|
44
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
26633932
|
IBIS
|
64 / 7739
|
45
|
(HPO:0001698)
|
Pericardial effusion |
|
|
26633932
|
IBIS
|
20 / 7739
|
46
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
26633932
|
IBIS
|
109 / 7739
|
47
|
(HPO:0002159)
|
Heparan sulfate excretion in urine |
|
|
26633932; 11015461; 9611068
|
IBIS
|
12 / 7739
|
48
|
(HPO:0001263)
|
Global developmental delay |
|
|
18245410; 9611068; 15797184
|
IBIS
|
853 / 7739
|
49
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
18245410
|
IBIS
|
32 / 7739
|
50
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
18245410
|
IBIS
|
47 / 7739
|
51
|
(HPO:0012795)
|
Abnormality of the optic disc |
|
|
18245410
|
IBIS
|
187 / 7739
|
52
|
(HPO:0000648)
|
Optic atrophy |
|
|
18245410
|
IBIS
|
238 / 7739
|
53
|
(HPO:0001250)
|
Seizures |
|
|
18245410
|
IBIS
|
1245 / 7739
|
54
|
(HPO:0006536)
|
Obstructive lung disease |
|
|
18245410
|
IBIS
|
7 / 7739
|
55
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
18245410; 15797184
|
IBIS
|
73 / 7739
|
56
|
(HPO:0000752)
|
Hyperactivity |
|
|
18245410; 9611068
|
IBIS
|
140 / 7739
|
57
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
18245410; 15797184
|
IBIS
|
212 / 7739
|
58
|
(HPO:0000718)
|
Aggressive behavior |
|
|
18245410
|
IBIS
|
109 / 7739
|
59
|
(HPO:0008301)
|
Dermatan sulfate excretion in urine |
|
|
11015461; 9611068
|
IBIS
|
8 / 7739
|
60
|
(HPO:0000280)
|
Coarse facial features |
|
|
11015461; 9611068; 15797184
|
IBIS
|
189 / 7739
|
61
|
(HPO:0005619)
|
Thoracolumbar kyphosis |
|
|
11015461
|
IBIS
|
8 / 7739
|
62
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
11015461
|
IBIS
|
27 / 7739
|
63
|
(HPO:0001249)
|
Intellectual disability |
|
|
11015461; 12572848
|
IBIS
|
1089 / 7739
|
64
|
(HPO:0005176)
|
Dysplastic aortic valve |
|
|
11015461
|
IBIS
|
2 / 7739
|
65
|
(HPO:0002240)
|
Hepatomegaly |
|
|
9611068
|
IBIS
|
467 / 7739
|
66
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
9611068; 12572848
|
IBIS
|
114 / 7739
|
67
|
(HPO:0000158)
|
Macroglossia |
|
|
9611068; 15797184
|
IBIS
|
119 / 7739
|
68
|
(HPO:0000023)
|
Inguinal hernia |
|
|
12572848
|
IBIS
|
181 / 7739
|
69
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
12572848
|
IBIS
|
31 / 7739
|
70
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
12572848
|
IBIS
|
131 / 7739
|
71
|
(HPO:0004322)
|
Short stature |
|
|
12572848; 15797184
|
IBIS
|
1232 / 7739
|
72
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
15797184
|
IBIS
|
31 / 7739
|
73
|
(HPO:0002808)
|
Kyphosis |
|
|
15797184
|
IBIS
|
289 / 7739
|
74
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
15797184
|
IBIS
|
29 / 7739
|
75
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
15797184
|
IBIS
|
61 / 7739
|
76
|
(HPO:0100785)
|
Insomnia |
|
|
15797184
|
IBIS
|
18 / 7739
|
77
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
|
|
15797184
|
IBIS
|
16 / 7739
|
78
|
(MedDRA:10001229)
|
Adenoidal hypertrophy |
|
|
15797184
|
IBIS
|
3 / 7739
|
79
|
(HPO:3000033)
|
Abnormality of nasopharyngeal adenoids |
|
|
15797184
|
IBIS
|
4 / 7739
|
80
|
(HPO:0003541)
|
Urinary glycosaminoglycan excretion |
|
|
15797184
|
IBIS
|
6 / 7739
|
81
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
18245410
|
IBIS
|
61 / 7739
|