Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0002684) Thickened calvaria 32 / 7739
3
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
4
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
5
 (HPO:0011276) Vascular skin abnormality Occasional [Orphanet] 24 / 7739
6
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
7
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
8
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
9
 (HPO:0003103) Abnormal cortical bone morphology Frequent [Orphanet] 38 / 7739
10
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
11
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
12
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
13
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
14
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
15
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
16
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
17
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
18
 (HPO:0000053) Macroorchidism Frequent [Orphanet] 18 / 7739
19
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
20
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
21
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
22
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
23
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
24
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
25
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
26
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
27
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
28
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
29
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
30
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
31
 (HPO:0000283) Broad face 12 / 7739
32
 (HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
33
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
34
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
35
 (HPO:0001249) Intellectual disability 1089 / 7739
36
 (HPO:0000154) Wide mouth 137 / 7739
37
 (HPO:0000248) Brachycephaly 222 / 7739
38
 (HPO:0000252) Microcephaly 832 / 7739
39
 (HPO:0000463) Anteverted nares 305 / 7739
40
 (HPO:0000518) Cataract 454 / 7739
41
 (HPO:0000750) Delayed speech and language development 197 / 7739
42
 (HPO:0000926) Platyspondyly 150 / 7739
43
 (HPO:0000943) Dysostosis multiplex 22 / 7739
44
 (HPO:0001061) Acne 33 / 7739
45
 (HPO:0001071) Angiokeratoma corporis diffusum 7 / 7739
46
 (HPO:0001252) Muscular hypotonia 990 / 7739
47
 (HPO:0001324) Muscle weakness 859 / 7739
48
 (HPO:0001257) Spasticity 251 / 7739
49
 (HPO:0001388) Joint laxity 117 / 7739
50
 (HPO:0001609) Hoarse voice 34 / 7739
51
 (HPO:0001653) Mitral regurgitation 64 / 7739
52
 (HPO:0001875) Neutropenia 83 / 7739
53
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
54
 (HPO:0002014) Diarrhea 225 / 7739
55
 (HPO:0002059) Cerebral atrophy 171 / 7739
56
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
57
 (HPO:0002376) Developmental regression 74 / 7739
58
 (HPO:0002738) Hypoplastic frontal sinuses 6 / 7739
59
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
60
 (HPO:0002756) Pathologic fracture 30 / 7739
61
 (HPO:0002808) Kyphosis 289 / 7739
62
 (HPO:0003302) Spondylolisthesis 14 / 7739
63
 (HPO:0003304) Spondylolysis 11 / 7739
64
 (HPO:0004322) Short stature 1232 / 7739
65
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
66
 (HPO:0005280) Depressed nasal bridge 381 / 7739
67
 (HPO:0012068) Aspartylglucosaminuria 1 / 7739
68
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
69
 (HPO:0100790) Hernia 9 / 7739
70
 (OMIM) Crystal-like lens opacity 1 / 7739
71
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
72
 (OMIM) Dysostosis multiplex, mild (in some patients) 5 / 7739
73
 (OMIM) Flattening and anterior beaking of vertebral bodies 1 / 7739
74
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
75
 (HPO:0010547) Muscle flaccidity 466 / 7739
76
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
77
 (HPO:0002719) Recurrent infections 107 / 7739
78
 (OMIM) Little to absent aspartylglucosaminuria activity 1 / 7739
79
 (OMIM) Decreased prothrombin time 1 / 7739
80
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
81
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
82
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
83
 (HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 34 / 7739
84
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
85
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
86
 (HPO:0000179) Thick lower lip vermilion 72 / 7739