Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
2
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
3
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
4
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
5
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
6
 (HPO:0001653) Mitral regurgitation 64 / 7739
7
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
8
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
10
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
11
 (HPO:0010547) Muscle flaccidity 466 / 7739
12
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
13
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
14
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
15
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
16
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
17
 (HPO:0009928) Thick nasal alae Very frequent [Orphanet] 21 / 7739
18
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
19
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
20
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
21
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
22
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
23
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
24
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
25
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
26
 (HPO:0001169) Broad palm 43 / 7739
27
 (HPO:0001176) Large hands Very frequent [Orphanet] 43 / 7739
28
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
29
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
30
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
31
 (HPO:0002684) Thickened calvaria 32 / 7739
32
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
33
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
34
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
35
 (HPO:0000973) Cutis laxa 43 / 7739
36
 (HPO:0001582) Redundant skin Frequent [Orphanet] 51 / 7739
37
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
38
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
39
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
40
 (HPO:0010049) Short metacarpal 99 / 7739
41
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
42
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
43
 (HPO:0002868) Narrow iliac wings 15 / 7739
44
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
45
 (HPO:0000695) Natal tooth Occasional [Orphanet] 42 / 7739
46
 (HPO:0000498) Blepharitis Occasional [Orphanet] 27 / 7739
47
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
48
 (HPO:0000189) Narrow palate 45 / 7739
49
 (HPO:0000218) High palate 356 / 7739
50
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
51
 (HPO:0001500) Broad finger Very frequent [Orphanet] 9 / 7739
52
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
53
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
54
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
55
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
56
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
57
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
58
 (HPO:0000668) Hypodontia 81 / 7739
59
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
60
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
61
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
62
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
63
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
64
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
65
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
66
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
67
 (HPO:0001249) Intellectual disability 1089 / 7739
68
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
69
 (HPO:0000023) Inguinal hernia 181 / 7739
70
 (HPO:0000139) Uterine prolapse 6 / 7739
71
 (HPO:0000303) Mandibular prognathia 179 / 7739
72
 (HPO:0000506) Telecanthus 156 / 7739
73
 (HPO:0000574) Thick eyebrow 96 / 7739
74
 (HPO:0000687) Widely spaced teeth 40 / 7739
75
 (HPO:0000689) Dental malocclusion 114 / 7739
76
 (HPO:0000954) Single transverse palmar crease 162 / 7739
77
 (HPO:0000965) Cutis marmorata 46 / 7739
78
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
79
 (HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
80
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
81
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
82
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
83
 (HPO:0001812) Hyperconvex fingernails 3 / 7739
84
 (HPO:0002035) Rectal prolapse 11 / 7739
85
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
86
 (HPO:0002208) Coarse hair 58 / 7739
87
 (HPO:0002553) Highly arched eyebrow 92 / 7739
88
 (HPO:0002673) Coxa valga 57 / 7739
89
 (HPO:0004325) Decreased body weight 492 / 7739
90
 (HPO:0006129) Drumstick terminal phalanges 1 / 7739
91
 (HPO:0008454) Lumbar kyphosis 3 / 7739
92
 (HPO:0009746) Thick nasal septum 1 / 7739
93
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
94
 (HPO:0010309) Bifid sternum 1 / 7739
95
 (OMIM) Birth length normal 15 / 7739
96
 (OMIM) Birth weight normal 14 / 7739
97
 (OMIM) Prominent brow 2 / 7739
98
 (OMIM) Thick alae nasi 2 / 7739
99
 (OMIM) Large, open mouth 1 / 7739
100
 (OMIM) Thick everted lower lip (deletion patients) 4 / 7739
101
 (OMIM) Large medial incisors 1 / 7739
102
 (OMIM) Short bifid sternum 1 / 7739
103
 (OMIM) Hypoplastic sinuses 1 / 7739
104
 (OMIM) Hypoplastic mastoids 1 / 7739
105
 (OMIM) Forearm fullness 1 / 7739
106
 (OMIM) Large, soft hands 1 / 7739
107
 (OMIM) Dependent acrocyanosis 1 / 7739
108
 (OMIM) Small fingernails 1 / 7739
109
 (OMIM) Straight, coarse hair 1 / 7739
110
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
111
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
112
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
113
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
114
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
115
 (HPO:0100613) Death in early adulthood Occasional [Orphanet] 10 / 7739
116
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
117
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
118
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
119
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
120
 (HPO:0001423) X-linked dominant inheritance 69 / 7739