Symptom Information: Sort according to HPO 

1
 (HPO:0007272) Progressive psychomotor deterioration Very frequent [IBIS] 2012122 IBIS 6 / 7739
2
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] Frequent [IBIS] 79% (n=77) 2012122 IBIS 189 / 7739
3
 (HPO:0001510) Growth delay Frequent [IBIS] 78% (n=77) 2012122 IBIS 295 / 7739
4
 (HPO:0002719) Recurrent infections Frequent [IBIS] 78% (n=77) 2012122 IBIS 107 / 7739
5
 (HPO:0000943) Dysostosis multiplex Frequent [IBIS] 58% (n=77) 2012122 IBIS 22 / 7739
6
 (HPO:0001071) Angiokeratoma corporis diffusum Frequent [IBIS] 52% (n=77) 2012122 IBIS 7 / 7739
7
 (HPO:0003271) Visceromegaly Frequent [IBIS] 44% (n=77) 2012122 IBIS 8 / 7739
8
 (HPO:0001250) Seizures Frequent [Orphanet] Frequent [IBIS] 38% (n=77) 2012122 IBIS 1245 / 7739
9
 (HPO:0001014) Angiokeratoma Frequent [IBIS] 24636010 IBIS 5 / 7739
10
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 9762612 IBIS 281 / 7739
11
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 2012122 IBIS 24 / 7739
12
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 26622931 IBIS 990 / 7739
13
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 814528 IBIS 291 / 7739
14
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 24636010 IBIS 169 / 7739
15
 (HPO:0001276) Hypertonia Frequent [Orphanet] 24636010 IBIS 317 / 7739
16
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 814528 IBIS 216 / 7739
17
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 25818965 IBIS 113 / 7739
18
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 11290499 IBIS 539 / 7739
19
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 24636010 IBIS 254 / 7739
20
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 26622931 IBIS 289 / 7739
21
 (HPO:0007256) Abnormal pyramidal signs Occasional [Orphanet] 24636010 IBIS 116 / 7739
22
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 15214749 IBIS 141 / 7739
23
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 11290499 IBIS 337 / 7739
24
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 26622931 IBIS 172 / 7739
25
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 11290499 IBIS 467 / 7739
26
 (HPO:0001640) Cardiomegaly Occasional [Orphanet] 11290499 IBIS 81 / 7739
27
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [Orphanet] 26622931 IBIS 17 / 7739
28
 (HPO:0001249) Intellectual disability 10571005 IBIS 1089 / 7739
29
 (HPO:0000158) Macroglossia 24636010 IBIS 119 / 7739
30
 (HPO:0000316) Hypertelorism 15214749 IBIS 644 / 7739
31
 (HPO:0000503) Tortuosity of conjunctival vessels 2721986 IBIS 3 / 7739
32
 (HPO:0000958) Dry skin 24636010 IBIS 152 / 7739
33
 (HPO:0000970) Anhidrosis 11290499 IBIS 24 / 7739
34
 (HPO:0001371) Flexion contracture 24636010 IBIS 220 / 7739
35
 (HPO:0001922) Vacuolated lymphocytes 2721986 IBIS 13 / 7739
36
 (HPO:0002059) Cerebral atrophy 11290499 IBIS 171 / 7739
37
 (HPO:0002510) Spastic tetraplegia 24636010 IBIS 54 / 7739
38
 (HPO:0002650) Scoliosis 26622931 IBIS 705 / 7739
39
 (HPO:0002673) Coxa valga 814528 IBIS 57 / 7739
40
 (HPO:0004298) Abnormality of the abdominal wall 15214749 IBIS 20 / 7739
41
 (HPO:0004322) Short stature 25818965 IBIS 1232 / 7739
42
 (HPO:0004630) Anterior beaking of thoracic vertebrae 26622931 IBIS 1 / 7739
43
 (HPO:0008430) Anterior beaking of lumbar vertebrae 26622931 IBIS 5 / 7739
44
 (HPO:0010471) Oligosacchariduria 10571005 IBIS 4 / 7739
45
 (HPO:0012236) Elevated sweat chloride 814528 IBIS 5 / 7739
46
 (HPO:0100790) Hernia 11290499 IBIS 9 / 7739
47
 (OMIM) Alpha-L-fucosidase deficiency 10571005 IBIS 1 / 7739
48
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 2721986 IBIS 124 / 7739
49
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 10571005 IBIS 34 / 7739
50
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 814528 IBIS 76 / 7739
51
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 10571005 IBIS 949 / 7739
52
 (HPO:0001626) Abnormality of the cardiovascular system Frequent [Orphanet] 814528 IBIS 73 / 7739
53
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 26713028 IBIS 492 / 7739
54
 (HPO:0002553) Highly arched eyebrow 24636010 IBIS 92 / 7739
55
 (HPO:0001324) Muscle weakness 24636010 IBIS 859 / 7739
56
 (HPO:0001332) Dystonia 24636010 IBIS 197 / 7739
57
 (HPO:0000212) Gingival overgrowth 24636010 IBIS 43 / 7739
58
 (HPO:0001508) Failure to thrive 24636010 IBIS 454 / 7739
59
 (HPO:0002500) Abnormality of the cerebral white matter 11290499 IBIS 73 / 7739
60
 (HPO:0006808) Cerebral hypomyelination 24636010 IBIS 16 / 7739
61
 (HPO:0002454) Eye of the tiger anomaly of globus pallidus 24636010 IBIS 3 / 7739
62
 (HPO:0012067) Glycopeptiduria 10571005 IBIS 1 / 7739
63
 (HPO:0000750) Delayed speech and language development 26622931 IBIS 197 / 7739
64
 (HPO:0001347) Hyperreflexia 26622931 IBIS 363 / 7739
65
 (HPO:0002064) Spastic gait 26622931 IBIS 46 / 7739
66
 (HPO:0000405) Conductive hearing impairment 26622931 IBIS 164 / 7739
67
 (HPO:0000389) Chronic otitis media 26622931 IBIS 64 / 7739
68
 (HPO:0005622) Broad long bones 26622931 IBIS 8 / 7739
69
 (HPO:0002750) Delayed skeletal maturation 26622931 IBIS 250 / 7739
70
 (HPO:0000939) Osteoporosis 26622931 IBIS 129 / 7739
71
 (HPO:0002453) Abnormality of the globus pallidus 26713028 IBIS 4 / 7739
72
 (HPO:0000256) Macrocephaly 11290499 IBIS 298 / 7739
73
 (HPO:0002751) Kyphoscoliosis 11290499 IBIS 131 / 7739
74
 (HPO:0001009) Telangiectasia 11290499 IBIS 46 / 7739
75
 (HPO:0001310) Dysmetria 11290499 IBIS 76 / 7739
76
 (HPO:0001272) Cerebellar atrophy 11290499 IBIS 197 / 7739
77
 (HPO:0003170) Abnormality of the acetabulum 25250075 IBIS 3 / 7739
78
 (HPO:0001288) Gait disturbance 814528 IBIS 318 / 7739
79
 (HPO:0003311) Hypoplasia of the odontoid process 814528 IBIS 34 / 7739
80
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 814528 IBIS 31 / 7739
81
 (HPO:0000975) Hyperhidrosis 814528 IBIS 64 / 7739