Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive 454 / 7739
2
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
3
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
6
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
7
 (HPO:0000998) Hypertrichosis 52 / 7739
8
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
9
 (HPO:0000212) Gingival overgrowth 43 / 7739
10
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
11
 (HPO:0000592) Blue sclerae Frequent [Orphanet] 85 / 7739
12
 (HPO:0000278) Retrognathia 100 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
15
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
16
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
17
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
18
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
19
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
20
 (HPO:0000452) Choanal stenosis 23 / 7739
21
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
22
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
23
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
24
 (HPO:0003100) Slender long bone Very frequent [Orphanet] 45 / 7739
25
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
26
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
27
 (HPO:0001601) Laryngomalacia Frequent [Orphanet] 61 / 7739
28
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
29
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
30
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
31
 (HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
32
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
33
 (HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
34
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
35
 (HPO:0001249) Intellectual disability 1089 / 7739
36
 (HPO:0001270) Motor delay 322 / 7739
37
 (HPO:0000098) Tall stature 74 / 7739
38
 (HPO:0000162) Glossoptosis 26 / 7739
39
 (HPO:0000272) Malar flattening 277 / 7739
40
 (HPO:0000322) Short philtrum 130 / 7739
41
 (HPO:0000365) Hearing impairment 539 / 7739
42
 (HPO:0000369) Low-set ears 372 / 7739
43
 (HPO:0000396) Overfolded helix 21 / 7739
44
 (HPO:0000574) Thick eyebrow 96 / 7739
45
 (HPO:0000586) Shallow orbits 23 / 7739
46
 (HPO:0000664) Synophrys 112 / 7739
47
 (HPO:0000767) Pectus excavatum 244 / 7739
48
 (HPO:0000879) Short sternum 16 / 7739
49
 (HPO:0001252) Muscular hypotonia 990 / 7739
50
 (HPO:0001324) Muscle weakness 859 / 7739
51
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
52
 (HPO:0001537) Umbilical hernia 206 / 7739
53
 (HPO:0001539) Omphalocele 102 / 7739
54
 (HPO:0001631) Atria septal defect 274 / 7739
55
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
56
 (HPO:0002059) Cerebral atrophy 171 / 7739
57
 (HPO:0002092) Pulmonary hypertension 109 / 7739
58
 (HPO:0002100) Recurrent aspiration pneumonia 6 / 7739
59
 (HPO:0002870) Obstructive sleep apnea 16 / 7739
60
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
61
 (HPO:0003414) Atlantoaxial dislocation 5 / 7739
62
 (HPO:0003778) Short mandibular rami 7 / 7739
63
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
64
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
65
 (HPO:0006048) Distal widening of metacarpals 1 / 7739
66
 (HPO:0006642) Large sternal ossification centers 1 / 7739
67
 (HPO:0007227) Macrogyria 9 / 7739
68
 (HPO:0009845) Bullet-shaped middle phalanges of the hand 1 / 7739
69
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
70
 (HPO:0010759) Prominence of the premaxilla 5 / 7739
71
 (HPO:0011800) Midface retrusion 221 / 7739
72
 (OMIM) Underweight for length 1 / 7739
73
 (OMIM) Everted lips 3 / 7739
74
 (OMIM) Irregular dentition 6 / 7739
75
 (OMIM) Rudimentary epiglottis 1 / 7739
76
 (HPO:0002104) Apnea 106 / 7739
77
 (HPO:0011951) Aspiration pneumonia 6 / 7739
78
 (OMIM) Thick clavicles 1 / 7739
79
 (OMIM) Long cranium 1 / 7739
80
 (OMIM) Prominent frontal bone 1 / 7739
81
 (OMIM) Proximal and middle phalanges 1 / 7739
82
 (OMIM) Bullet-shaped middle phalanges 1 / 7739
83
 (OMIM) Narrowed distal phalanges 1 / 7739
84
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
85
 (HPO:0010547) Muscle flaccidity 466 / 7739
86
 (HPO:0003416) Spinal canal stenosis 28 / 7739
87
 (OMIM) Early death 13 / 7739
88
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
89
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
90
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
91
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
92
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
93
 (HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
94
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
95
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
96
 (HPO:0003745) Sporadic 131 / 7739
97
 (HPO:0003819) Death in childhood 42 / 7739
98
 (HPO:0040079) Irregular dentition 7 / 7739