Symptom Information: Sort according to HPO 

1
 (HPO:0000943) Dysostosis multiplex Very frequent [IBIS] 18651971 IBIS 22 / 7739
2
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] Very frequent [IBIS] 23430902 IBIS 539 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment Very frequent [IBIS] 23786919 IBIS 524 / 7739
4
 (HPO:0030148) Heart murmur Occasional [IBIS] 21% (n=43) 23786919 IBIS 29 / 7739
5
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] Occasional [IBIS] 18651971 IBIS 212 / 7739
6
 (HPO:0000518) Cataract Very frequent [Orphanet] Rare [IBIS] 23786919 IBIS 454 / 7739
7
 (HPO:0002684) Thickened calvaria 10447604 IBIS 32 / 7739
8
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 10447604 IBIS 55 / 7739
9
 (HPO:0000738) Hallucinations Occasional [Orphanet] 18651971 IBIS 60 / 7739
10
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 18651971 IBIS 119 / 7739
11
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 24234586 IBIS 189 / 7739
12
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 7745547 IBIS 990 / 7739
13
 (HPO:0001324) Muscle weakness 18651971 IBIS 859 / 7739
14
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 18651971 IBIS 179 / 7739
15
 (HPO:0000212) Gingival overgrowth 7745547 IBIS 43 / 7739
16
 (HPO:0000023) Inguinal hernia 7702090 IBIS 181 / 7739
17
 (HPO:0100769) Synovitis Occasional [Orphanet] 6614312 IBIS 86 / 7739
18
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 7900112 IBIS 644 / 7739
19
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 7897530 IBIS 298 / 7739
20
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 18651971 IBIS 381 / 7739
21
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 23786919 IBIS 242 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 18651971 IBIS 705 / 7739
23
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 23786919 IBIS 113 / 7739
24
 (HPO:0010885) Aseptic necrosis Occasional [Orphanet] 18651971 IBIS 24 / 7739
25
 (HPO:0000470) Short neck Frequent [Orphanet] 18651971 IBIS 345 / 7739
26
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 12718372 IBIS 254 / 7739
27
 (HPO:0002808) Kyphosis Frequent [Orphanet] 1853034 IBIS 289 / 7739
28
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 12816222 IBIS 64 / 7739
29
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 7702090 IBIS 337 / 7739
30
 (HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 7897530 IBIS 47 / 7739
31
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 18651971 IBIS 467 / 7739
32
 (HPO:0001249) Intellectual disability 26016802 IBIS 1089 / 7739
33
 (HPO:0001263) Global developmental delay 18651971 IBIS 853 / 7739
34
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 23786919 IBIS 250 / 7739
35
 (HPO:0000286) Epicanthus 12718372 IBIS 371 / 7739
36
 (HPO:0000294) Low anterior hairline 1472354 IBIS 52 / 7739
37
 (HPO:0000337) Broad forehead 18651971 IBIS 116 / 7739
38
 (HPO:0000400) Macrotia 23211899 IBIS 108 / 7739
39
 (HPO:0000457) Depressed nasal ridge 7900112 IBIS 85 / 7739
40
 (HPO:0000574) Thick eyebrow 1472354 IBIS 96 / 7739
41
 (HPO:0000639) Nystagmus 10447604 IBIS 555 / 7739
42
 (HPO:0000687) Widely spaced teeth 18651971 IBIS 40 / 7739
43
 (HPO:0000768) Pectus carinatum 23786919 IBIS 136 / 7739
44
 (HPO:0000998) Hypertrichosis 7702090 IBIS 52 / 7739
45
 (HPO:0001260) Dysarthria 23307885 IBIS 329 / 7739
46
 (HPO:0001272) Cerebellar atrophy 23430902 IBIS 197 / 7739
47
 (HPO:0001510) Growth delay 18651971 IBIS 295 / 7739
48
 (HPO:0001922) Vacuolated lymphocytes 23307885 IBIS 13 / 7739
49
 (HPO:0002007) Frontal bossing 18651971 IBIS 366 / 7739
50
 (HPO:0002066) Gait ataxia 23430902 IBIS 327 / 7739
51
 (HPO:0002070) Limb ataxia 10447604 IBIS 41 / 7739
52
 (HPO:0002718) Recurrent bacterial infections 11014473 IBIS 75 / 7739
53
 (HPO:0002980) Femoral bowing 6860058 IBIS 36 / 7739
54
 (HPO:0003302) Spondylolisthesis 1472354 IBIS 14 / 7739
55
 (HPO:0003487) Babinski sign 10447604 IBIS 179 / 7739
56
 (HPO:0005469) Flat occiput 7702090 IBIS 30 / 7739
57
 (HPO:0005619) Thoracolumbar kyphosis 1853034 IBIS 8 / 7739
58
 (HPO:0007893) Progressive retinal degeneration 23786919 IBIS 3 / 7739
59
 (OMIM) Lenticular 'spoke-like' opacities 606170 IBIS 1 / 7739
60
 (OMIM) Anterior hair whorl 7702090 IBIS 1 / 7739
61
 (OMIM) Increased urinary mannose-containing oligosaccharides 23430902 IBIS 1 / 7739
62
 (OMIM) Decreased lysosomal alpha-mannosidase activity in plasma and leukocytes 24234586 IBIS 1 / 7739
63
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 18651971 IBIS 291 / 7739
64
 (HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 23307885 IBIS 34 / 7739
65
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 7745547 IBIS 51 / 7739
66
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 18651971 IBIS 949 / 7739
67
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 18651971 IBIS 124 / 7739
68
 (HPO:0400004) Long ear Frequent [Orphanet] 23211899 IBIS 94 / 7739
69
 (HPO:0000238) Hydrocephalus 18651971 IBIS 278 / 7739
70
 (HPO:0000766) Abnormality of the sternum 18651971 IBIS 31 / 7739
71
 (HPO:0002167) Neurological speech impairment 18651971 IBIS 308 / 7739
72
 (HPO:0011729) Abnormality of joint mobility 18651971 IBIS 2 / 7739
73
 (HPO:0002999) Patellar dislocation 23430902 IBIS 46 / 7739
74
 (HPO:0011220) Prominent forehead 18651971 IBIS 137 / 7739
75
 (HPO:0002553) Highly arched eyebrow 18651971 IBIS 92 / 7739
76
 (HPO:0000486) Strabismus 18651971 IBIS 576 / 7739
77
 (HPO:0010471) Oligosacchariduria 23786919 IBIS 4 / 7739
78
 (HPO:0001762) Talipes equinovarus 18651971 IBIS 309 / 7739
79
 (HPO:0002857) Genu valgum 18651971 IBIS 144 / 7739
80
 (HPO:0005186) Synovial hypertrophy 18651971 IBIS 2 / 7739
81
 (HPO:0000540) Hypermetropia 18651971 IBIS 99 / 7739
82
 (HPO:0000545) Myopia 18651971 IBIS 286 / 7739
83
 (HPO:0007957) Corneal opacity 18651971 IBIS 84 / 7739
84
 (HPO:0001270) Motor delay 18651971 IBIS 322 / 7739
85
 (HPO:0100543) Cognitive impairment 18651971 IBIS 230 / 7739
86
 (HPO:0002059) Cerebral atrophy 23430902 IBIS 171 / 7739
87
 (HPO:0007266) Cerebral dysmyelination 18651971 IBIS 13 / 7739
88
 (HPO:0001289) Confusion 18651971 IBIS 36 / 7739
89
 (HPO:0002719) Recurrent infections 18651971 IBIS 107 / 7739
90
 (HPO:0003202) Skeletal muscle atrophy 23430902 IBIS 281 / 7739
91
 (HPO:0002451) Limb dystonia 23430902 IBIS 16 / 7739
92
 (HPO:0002500) Abnormality of the cerebral white matter 26212233 IBIS 73 / 7739
93
 (HPO:0002751) Kyphoscoliosis 23786919 IBIS 131 / 7739
94
 (HPO:0001537) Umbilical hernia 12718372 IBIS 206 / 7739
95
 (HPO:0003116) Abnormal echocardiogram 23786919 IBIS 33 / 7739
96
 (HPO:0012664) Reduced ejection fraction 23786919 IBIS 32 / 7739
97
 (HPO:0001760) Abnormality of the foot 23786919 IBIS 96 / 7739
98
 (HPO:0001310) Dysmetria 23786919 IBIS 76 / 7739
99
 (HPO:0000646) Amblyopia 23786919 IBIS 42 / 7739
100
 (HPO:0005952) Decreased pulmonary function 23786919 IBIS 8 / 7739
101
 (HPO:0001284) Areflexia 10447604 IBIS 198 / 7739
102
 (HPO:0011061) Abnormality of dental structure 18651971 IBIS 1 / 7739
103
 (HPO:0005187) Progressive joint destruction 14749981 IBIS 2 / 7739
104
 (HPO:0005752) Flattened moderately deformed vertebrae 1265271 IBIS 2 / 7739
105
 (HPO:0002867) Abnormality of the ilium 1265271 IBIS 1 / 7739