Symptom Information: Sort according to HPO 

1
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
2
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
3
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
4
 (HPO:0009928) Thick nasal alae Occasional [Orphanet] 21 / 7739
5
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
6
 (HPO:0004411) Deviated nasal septum Occasional [Orphanet] 3 / 7739
7
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
8
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
9
 (HPO:0001250) Seizures Occasional [Orphanet] 2/29 [HPO] 20543202 IBIS 1245 / 7739
10
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
11
 (HPO:0000053) Macroorchidism Occasional [Orphanet] 18 / 7739
12
 (HPO:0001249) Intellectual disability 38 % [HPO:skoehler] 1089 / 7739
13
 (HPO:0001263) Global developmental delay 14/29 [HPO] 20543202 IBIS 853 / 7739
14
 (HPO:0001328) Specific learning disability 13/29 [HPO] 20543202 IBIS 114 / 7739
15
 (HPO:0000098) Tall stature 13/28 [HPO] 20543202 IBIS 74 / 7739
16
 (HPO:0000256) Macrocephaly 9/23 [HPO] 20543202 IBIS 298 / 7739
17
 (HPO:0001355) Megalencephaly 39 / 7739
18
 (HPO:0004482) Relative macrocephaly 44 / 7739
19
 (HPO:0000280) Coarse facial features 17/29 [HPO] 20543202 IBIS 189 / 7739
20
 (HPO:0000316) Hypertelorism 25/29 [HPO] 20543202 IBIS 644 / 7739
21
 (HPO:0000324) Facial asymmetry 8/29 [HPO] 20543202 IBIS 57 / 7739
22
 (HPO:0000365) Hearing impairment 3/29 [HPO] 20543202 IBIS 539 / 7739
23
 (HPO:0000369) Low-set ears 4/29 [HPO] 20543202 IBIS 372 / 7739
24
 (HPO:0000475) Broad neck 9/29 [HPO] 20543202 IBIS 12 / 7739
25
 (HPO:0000486) Strabismus 4/29 [HPO] 20543202 IBIS 576 / 7739
26
 (HPO:0000750) Delayed speech and language development 14/29 [HPO] 20543202 IBIS 197 / 7739
27
 (HPO:0000767) Pectus excavatum 9/29 [HPO] 20543202 IBIS 244 / 7739
28
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
29
 (HPO:0000957) Cafe-au-lait spot 27/29 [HPO] 20543202 IBIS 84 / 7739
30
 (HPO:0007429) Few cafe-au-lait spots 7 / 7739
31
 (HPO:0007565) Multiple cafe-au-lait spots 11 / 7739
32
 (HPO:0000997) Axillary freckling 28/29 [HPO] 20543202 IBIS 9 / 7739
33
 (HPO:0001169) Broad palm 43 / 7739
34
 (HPO:0001176) Large hands 13/28 [HPO] 20543202 IBIS 43 / 7739
35
 (HPO:0001230) Broad metacarpals 17 / 7739
36
 (HPO:0001252) Muscular hypotonia 13/29 [HPO] 20543202 IBIS 990 / 7739
37
 (HPO:0001324) Muscle weakness 859 / 7739
38
 (HPO:0001382) Joint hypermobility 21/29 [HPO] 20543202 IBIS 231 / 7739
39
 (HPO:0001548) Overgrowth 27 / 7739
40
 (HPO:0001761) Pes cavus 5/29 [HPO] 20543202 IBIS 225 / 7739
41
 (HPO:0001833) Long foot 46 % [HPO:skoehler] 33 / 7739
42
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
43
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
44
 (HPO:0002650) Scoliosis 12/28 [HPO] 20543202 IBIS 705 / 7739
45
 (HPO:0007018) Attention deficit hyperactivity disorder 8/24 [HPO] 20543202 IBIS 56 / 7739
46
 (HPO:0007183) Focal T2 hyperintense basal ganglia lesion 13/29 [HPO] 20543202 IBIS 6 / 7739
47
 (HPO:0009732) Plexiform neurofibroma 22/29 [HPO] 20543202 IBIS 3 / 7739
48
 (HPO:0009734) Optic glioma 5/27 [HPO] 20543202 IBIS 7 / 7739
49
 (HPO:0009735) Spinal neurofibromas 9/14 [HPO] 20543202 IBIS 3 / 7739
50
 (HPO:0009737) Lisch nodules 27/29 [HPO] 20543202 IBIS 10 / 7739
51
 (HPO:0012062) Bone cyst 8/16 [HPO] 20543202 IBIS 19 / 7739
52
 (HPO:0100697) Neurofibrosarcoma 6/29 [HPO] 20543202 IBIS 5 / 7739
53
 (HPO:0100698) Subcutaneous neurofibromas 22/29 [HPO] 20543202 IBIS 3 / 7739
54
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
55
 (HPO:0000271) Abnormality of the face 108 / 7739
56
 (HPO:0000319) Smooth philtrum 72 / 7739
57
 (HPO:0001999) Abnormal facial shape 169 / 7739
58
 (OMIM) Increased joint laxity (72%) 2 / 7739
59
 (OMIM) Accelerated carpal bone age 2 / 7739
60
 (OMIM) Large feet 12 / 7739
61
 (HPO:0001763) Pes planus 176 / 7739
62
 (HPO:0001765) Hammertoe 63 / 7739
63
 (HPO:0001822) Hallux valgus 70 / 7739
64
 (HPO:0001838) Rocker bottom foot 85 / 7739
65
 (OMIM) Inguinal freckling 4 / 7739
66
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
67
 (HPO:0010547) Muscle flaccidity 466 / 7739
68
 (OMIM) Soft fleshy palms (50%) 2 / 7739
69
 (OMIM) Delayed cognitive development/learning disabilities (93%) 2 / 7739
70
 (OMIM) Brain MRI shows T2-weighted hyperintensities (17%) 2 / 7739
71
 (OMIM) Attention difficulties (73%) 2 / 7739
72
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
73
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
74
 (HPO:0000366) Abnormality of the nose Occasional [Orphanet] 56 / 7739
75
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
76
 (HPO:0200102) Sparse or absent eyelashes Occasional [Orphanet] 64 / 7739
77
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
78
 (HPO:0003745) Sporadic 131 / 7739
79
 (HPO:0030052) Inguinal freckling 3 / 7739
80
 (HPO:0030680) Abnormality of cardiovascular system morphology 8/28 [HPO] 355 / 7739
81
 (HPO:0100543) Cognitive impairment 27/29 [HPO] 230 / 7739