Symptom Information: Sort according to HPO 

1
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
2
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
3
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
5
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
8
 (HPO:0002263) Exaggerated cupid's bow Very frequent [Orphanet] 15 / 7739
9
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
10
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
11
 (HPO:0000369) Low-set ears 372 / 7739
12
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
13
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
14
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
15
 (HPO:0000212) Gingival overgrowth 43 / 7739
16
 (HPO:0001591) Bell-shaped thorax Very frequent [Orphanet] 35 / 7739
17
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
18
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
19
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
20
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
21
 (HPO:0000126) Hydronephrosis rare [HPO:skoehler] 119 / 7739
22
 (HPO:0000154) Wide mouth rare [HPO:skoehler] 137 / 7739
23
 (HPO:0000160) Narrow mouth 188 / 7739
24
 (HPO:0000175) Cleft palate 349 / 7739
25
 (HPO:0000218) High palate 356 / 7739
26
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
27
 (HPO:0000244) Brachyturricephaly 9 / 7739
28
 (HPO:0000272) Malar flattening 277 / 7739
29
 (HPO:0000303) Mandibular prognathia rare [HPO:skoehler] 179 / 7739
30
 (HPO:0000316) Hypertelorism 644 / 7739
31
 (HPO:0000410) Mixed hearing impairment Occasional [HPO:probinson] 22 / 7739
32
 (HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
33
 (HPO:0009904) Prominent ear helix 8 / 7739
34
 (HPO:0000452) Choanal stenosis 23 / 7739
35
 (HPO:0000453) Choanal atresia 76 / 7739
36
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
37
 (HPO:0000691) Microdontia rare [HPO:skoehler] 104 / 7739
38
 (HPO:0000695) Natal tooth Occasional [HPO:probinson] 42 / 7739
39
 (HPO:0000767) Pectus excavatum rare [HPO:skoehler] 244 / 7739
40
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
41
 (HPO:0001357) Plagiocephaly rare [HPO:skoehler] 106 / 7739
42
 (HPO:0001847) Long hallux rare [HPO:skoehler] 13 / 7739
43
 (HPO:0002148) Hypophosphatemia 43 / 7739
44
 (HPO:0002514) Cerebral calcification 89 / 7739
45
 (HPO:0005671) Bilateral intracranial calcifications 9 / 7739
46
 (HPO:0005849) Diffuse cerebral calcification 9 / 7739
47
 (HPO:0002553) Highly arched eyebrow rare [HPO:skoehler] 92 / 7739
48
 (HPO:0001371) Flexion contracture 220 / 7739
49
 (HPO:0002804) Arthrogryposis multiplex congenita rare [HPO:skoehler] 93 / 7739
50
 (HPO:0005684) Distal arthrogryposis 31 / 7739
51
 (HPO:0002983) Micromelia rare [HPO:skoehler] 130 / 7739
52
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
53
 (HPO:0004322) Short stature 1232 / 7739
54
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
55
 (HPO:0005280) Depressed nasal bridge 381 / 7739
56
 (HPO:0006297) Hypoplasia of dental enamel rare [HPO:skoehler] 64 / 7739
57
 (HPO:0006487) Bowing of the long bones rare [HPO:skoehler] 95 / 7739
58
 (HPO:0010808) Protruding tongue 28 / 7739
59
 (HPO:0011800) Midface retrusion 221 / 7739
60
 (HPO:0000248) Brachycephaly 222 / 7739
61
 (OMIM) Craniofacial dysplasia 1 / 7739
62
 (OMIM) 'Fishlike' facies 1 / 7739
63
 (OMIM) Choanal atresia/stenosis 1 / 7739
64
 (HPO:0000377) Abnormality of the pinna 111 / 7739
65
 (OMIM) Large protruding tongue 1 / 7739
66
 (HPO:0000164) Abnormality of the teeth 291 / 7739
67
 (OMIM) Multiple fracture-like rib lesions 1 / 7739
68
 (OMIM) Microscrotum (in some patients) 1 / 7739
69
 (OMIM) Decreased tubular resorption of phosphate (in some patients) 1 / 7739
70
 (OMIM) Double renal pelvis (in some patients) 1 / 7739
71
 (OMIM) Renal cortex calcification (in some patients) 1 / 7739
72
 (OMIM) Hydroureter, bilateral (in some patients) 1 / 7739
73
 (OMIM) Stenotic ostia of ureters (in some patients) 1 / 7739
74
 (HPO:0005789) Generalized osteosclerosis 10 / 7739
75
 (OMIM) Absence of ossification of vertebral bodies C3 to C5 (rare) 1 / 7739
76
 (HPO:0003422) Vertebral segmentation defect 95 / 7739
77
 (OMIM) Absence of ossification of sacrum (rare) 1 / 7739
78
 (OMIM) Short limbs 17 / 7739
79
 (OMIM) Bulbous fingertips (in some patients) 1 / 7739
80
 (OMIM) Thick fingers (in some patients) 1 / 7739
81
 (MedDRA:10072883) Brachydactyly 153 / 7739
82
 (HPO:0001334) Communicating hydrocephalus 32 / 7739
83
 (HPO:0001263) Global developmental delay 853 / 7739
84
 (OMIM) Self-stimulating behavior (in some patients) 1 / 7739
85
 (OMIM) Low circulating phosphate 1 / 7739
86
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
87
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
88
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
89
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
90
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
91
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
92
 (HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
93
 (HPO:0003811) Neonatal death 44 / 7739