Symptom Information: Sort according to HPO 

1
(HPO:0011304) Broad thumb 39 / 7739
2
(HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
4
(HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
5
(HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
6
(HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
7
(HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
8
(HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
9
(HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
10
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
11
(HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
12
(HPO:0001829) Foot polydactyly Occasional [Orphanet] 41 / 7739
13
(HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
14
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
15
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
16
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
17
(HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
18
(HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
19
(HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
20
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
21
(HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
22
(HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
23
(HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
24
(HPO:0010296) Ankyloglossia Occasional [Orphanet] 11 / 7739
25
(HPO:0100753) Schizophrenia 20 / 7739
26
(HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
27
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
28
(HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
29
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
30
(HPO:0001680) Coarctation of aorta 57 / 7739
31
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
32
(HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
33
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
34
(HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
35
(HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
36
(HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
37
(HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
38
(HPO:0000414) Bulbous nose 63 / 7739
39
(HPO:0001249) Intellectual disability 1089 / 7739
40
(HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
41
(HPO:0001660) Truncus arteriosus 21 / 7739
42
(HPO:0001669) Transposition of the great arteries 36 / 7739
43
(HPO:0001773) Short foot Occasional [Orphanet] 86 / 7739
44
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
45
(HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
46
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
47
(OMIM) Normal or reduced 1 / 7739
48
(OMIM) Mild dysmorphism 2 / 7739
49
(OMIM) Bicuspid aortic valve with aneurysm 1 / 7739
50
(OMIM) Broad halluces 12 / 7739
51
(OMIM) Duplicated or bifid halluces (minority) 1 / 7739
52
(OMIM) Mental retardation, mild to moderate 33 / 7739
53
(OMIM) Normal neurological development is possible 1 / 7739
54
(HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
55
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
56
(HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
57
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
58
(HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
59
(HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
60
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
61
(HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
62
(HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
63
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
64
(HPO:0003829) Incomplete penetrance 85 / 7739