|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0001131)
|
Corneal dystrophy |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0000765)
|
Abnormality of the thorax |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
5
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0100679)
|
Lack of skin elasticity |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
7
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
8
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
9
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
10
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
11
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
|
12
|
(HPO:0001654)
|
Abnormality of the heart valves |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
13
|
(HPO:0000187)
|
Broad alveolar ridges |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
16
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
17
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
18
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
19
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
22
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
23
|
(HPO:0001048)
|
Cavernous hemangioma |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
24
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
25
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
26
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
27
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
28
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
29
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
30
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
|
31
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
32
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
33
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
34
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
35
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
36
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
37
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
38
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
39
|
(HPO:0001540)
|
Diastasis recti |
|
|
|
|
23 / 7739
|
|
40
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
41
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
42
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
43
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
44
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
45
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
46
|
(HPO:0002196)
|
Myelopathy |
|
|
|
|
6 / 7739
|
|
47
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
48
|
(HPO:0002690)
|
Large sella turcica |
|
|
|
|
12 / 7739
|
|
49
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
50
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
51
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
|
|
21 / 7739
|
|
52
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
|
53
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
54
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
55
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
56
|
(HPO:0003264)
|
Deficiency of N-acetylglucosamine-1-phosphotransferase |
|
|
|
|
3 / 7739
|
|
57
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
58
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
59
|
(HPO:0003333)
|
Increased serum beta-hexosaminidase |
|
|
|
|
4 / 7739
|
|
60
|
(HPO:0003414)
|
Atlantoaxial dislocation |
|
|
|
|
5 / 7739
|
|
61
|
(HPO:0003423)
|
Thoracolumbar kyphoscoliosis |
|
|
|
|
4 / 7739
|
|
62
|
(HPO:0003538)
|
Increased serum iduronate sulfatase activity |
|
|
|
|
4 / 7739
|
|
63
|
(HPO:0004562)
|
Beaking of vertebral bodies T12-L3 |
|
|
|
|
1 / 7739
|
|
64
|
(HPO:0006362)
|
Varus deformity of humeral neck |
|
|
|
|
1 / 7739
|
|
65
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
66
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
67
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
68
|
(HPO:0008155)
|
Mucopolysacchariduria |
|
|
|
|
6 / 7739
|
|
69
|
(HPO:0008470)
|
Lower thoracic interpediculate narrowness |
|
|
|
|
1 / 7739
|
|
70
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
71
|
(HPO:0009092)
|
Progressive alveolar ridge hypertropy |
|
|
|
|
1 / 7739
|
|
72
|
(HPO:0009769)
|
Bullet-shaped phalanges of the hand |
|
|
|
|
2 / 7739
|
|
73
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
74
|
(HPO:0100540)
|
Palpebral edema |
|
|
|
|
31 / 7739
|
|
75
|
(OMIM)
|
Birth length less than normal |
|
|
|
|
1 / 7739
|
|
76
|
(OMIM)
|
Deceleration of linear growth during first year |
|
|
|
|
1 / 7739
|
|
77
|
(OMIM)
|
Birth weight less than normal |
|
|
|
|
1 / 7739
|
|
78
|
(OMIM)
|
Progressive failure to thrive |
|
|
|
|
1 / 7739
|
|
79
|
(OMIM)
|
Hurler-like body configuration |
|
|
|
|
1 / 7739
|
|
80
|
(OMIM)
|
High, narrow forehead |
|
|
|
|
1 / 7739
|
|
81
|
(OMIM)
|
Thick, firm earlobes |
|
|
|
|
1 / 7739
|
|
82
|
(OMIM)
|
Clear to faintly hazy corneas |
|
|
|
|
1 / 7739
|
|
83
|
(OMIM)
|
Corneal opacities on slit-lamp examination |
|
|
|
|
2 / 7739
|
|
84
|
(MedDRA:10007586)
|
Cardiac murmur |
|
|
|
|
2 / 7739
|
|
85
|
(OMIM)
|
Broad, spatulate-appearing ribs |
|
|
|
|
1 / 7739
|
|
86
|
(OMIM)
|
Minimal splenomegaly |
|
|
|
|
1 / 7739
|
|
87
|
(OMIM)
|
Moderate joint limitation |
|
|
|
|
1 / 7739
|
|
88
|
(OMIM)
|
Osteopenia in early infancy |
|
|
|
|
1 / 7739
|
|
89
|
(OMIM)
|
Normal enlarged sella turcica |
|
|
|
|
1 / 7739
|
|
90
|
(OMIM)
|
Lumbar gibbus |
|
|
|
|
1 / 7739
|
|
91
|
(OMIM)
|
Supra-acetabular constriction |
|
|
|
|
1 / 7739
|
|
92
|
(OMIM)
|
Irregular contours of pubis and ischium |
|
|
|
|
1 / 7739
|
|
93
|
(OMIM)
|
Cortical bone erosion (especially proximal femora) |
|
|
|
|
1 / 7739
|
|
94
|
(OMIM)
|
Tilted distal ends of radius and ulna |
|
|
|
|
1 / 7739
|
|
95
|
(OMIM)
|
Broadening of wrist |
|
|
|
|
1 / 7739
|
|
96
|
(OMIM)
|
Brachyphalangia |
|
|
|
|
1 / 7739
|
|
97
|
(OMIM)
|
Thick, relatively tight skin |
|
|
|
|
1 / 7739
|
|
98
|
(OMIM)
|
Normal to mildly increased mucopolysacchariduria |
|
|
|
|
1 / 7739
|
|
99
|
(OMIM)
|
Increased serum arylsulfatase A (10-20x) |
|
|
|
|
2 / 7739
|
|
100
|
(OMIM)
|
Inclusion bodies (membrane-bound vacuoles) in fibroblasts |
|
|
|
|
1 / 7739
|
|
101
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
102
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
103
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
104
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
105
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
106
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
107
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|
|
108
|
(HPO:0030148)
|
Heart murmur |
|
|
|
|
29 / 7739
|