Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
3
 (HPO:0000262) Turricephaly Occasional [Orphanet] 38 / 7739
4
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
5
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
6
 (HPO:0009891) Underdeveloped supraorbital ridges Occasional [Orphanet] 36 / 7739
7
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
8
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
10
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
11
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
12
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
13
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
14
 (HPO:0000452) Choanal stenosis 23 / 7739
15
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
16
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
17
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
18
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
19
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
20
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
21
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
22
 (HPO:0003041) Humeroradial synostosis Very frequent [Orphanet] 19 / 7739
23
 (HPO:0001166) Arachnodactyly 62 / 7739
24
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
25
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
26
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
27
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
28
 (HPO:0000063) Fused labia minora 3 / 7739
29
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
30
 (HPO:0000148) Vaginal atresia 16 / 7739
31
 (HPO:0000238) Hydrocephalus 278 / 7739
32
 (HPO:0000260) Wide anterior fontanel 55 / 7739
33
 (HPO:0000377) Abnormality of the pinna 111 / 7739
34
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
35
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
36
 (HPO:0001249) Intellectual disability 1089 / 7739
37
 (HPO:0001631) Atria septal defect 274 / 7739
38
 (HPO:0001838) Rocker bottom foot 85 / 7739
39
 (HPO:0002781) Upper airway obstruction 7 / 7739
40
 (HPO:0002980) Femoral bowing 36 / 7739
41
 (HPO:0003031) Ulnar bowing 16 / 7739
42
 (HPO:0003275) Narrow pelvis bone 8 / 7739
43
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
44
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
45
 (HPO:0005280) Depressed nasal bridge 381 / 7739
46
 (HPO:0011800) Midface retrusion 221 / 7739
47
 (HPO:0012210) Abnormal renal morphology 18 / 7739
48
 (HPO:0012385) Camptodactyly 113 / 7739
49
 (OMIM) Choanal atresia or stenosis 3 / 7739
50
 (OMIM) Craniosynostosis, coronal and lambdoidal 1 / 7739
51
 (OMIM) Radiohumeral synostosis 3 / 7739
52
 (OMIM) Neonatal femoral fractures 1 / 7739
53
 (HPO:0001371) Flexion contracture 220 / 7739
54
 (OMIM) Mental retardation, variable 7 / 7739
55
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
56
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
57
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
58
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739