Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
2
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739
3
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] hallmark [HPO] 19619433 IBIS 119 / 7739
4
 (HPO:0000023) Inguinal hernia frequent [HPO] 19619433 IBIS 181 / 7739
5
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
6
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] obligate [HPO] 180 / 7739
7
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 24/26 [HPO] 1491747 IBIS 644 / 7739
8
 (HPO:0001305) Dandy-Walker malformation Frequent [Orphanet] 79 / 7739
9
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
10
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
11
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
12
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
14
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 25/27 [HPO] 1491747 IBIS 298 / 7739
15
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
16
 (HPO:0000260) Wide anterior fontanel typical [HPO] 19619433 IBIS 55 / 7739
17
 (HPO:0001249) Intellectual disability 23/25 [HPO] 1491747 IBIS 1089 / 7739
18
 (HPO:0000028) Cryptorchidism occasional [HPO] 19619433 IBIS 347 / 7739
19
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
20
 (HPO:0000047) Hypospadias Occasional [Orphanet] 10/18 [HPO] 1491747 IBIS 250 / 7739
21
 (HPO:0000054) Micropenis occasional [HPO] 19619433 IBIS 257 / 7739
22
 (HPO:0000143) Rectovaginal fistula 18 / 7739
23
 (HPO:0000175) Cleft palate 21% [HPO] 19619433 IBIS 349 / 7739
24
 (HPO:0000194) Open mouth 16% [HPO] 19619433 IBIS 70 / 7739
25
 (HPO:0000204) Cleft upper lip 21% [HPO] 19619433 IBIS 193 / 7739
26
 (HPO:0000207) Triangular mouth 8 / 7739
27
 (HPO:0000218) High palate 31% [HPO] 19619433 IBIS 356 / 7739
28
 (HPO:0000233) Thin vermilion border 9% [HPO] 19619433 IBIS 124 / 7739
29
 (HPO:0000286) Epicanthus typical [HPO] 19619433 IBIS 371 / 7739
30
 (HPO:0000308) Microretrognathia 14% [HPO] 19619433 IBIS 78 / 7739
31
 (HPO:0000319) Smooth philtrum 2% [HPO] 19619433 IBIS 72 / 7739
32
 (HPO:0000322) Short philtrum 31% [HPO] 19619433 IBIS 130 / 7739
33
 (HPO:0000337) Broad forehead typical [HPO] 19619433 IBIS 116 / 7739
34
 (HPO:0000343) Long philtrum 9% [HPO] 19619433 IBIS 262 / 7739
35
 (HPO:0000358) Posteriorly rotated ears occasional [HPO] 19619433 IBIS 163 / 7739
36
 (HPO:0000365) Hearing impairment occasional [HPO] 19619433 IBIS 539 / 7739
37
 (HPO:0000377) Abnormality of the pinna 19/23 [HPO] 1491747 IBIS 111 / 7739
38
 (HPO:0000384) Preauricular skin tag typical [HPO] 19619433 IBIS 62 / 7739
39
 (HPO:0000431) Wide nasal bridge 24/26 [HPO] 1491747 IBIS 290 / 7739
40
 (HPO:0000486) Strabismus occasional [HPO] 19619433 IBIS 576 / 7739
41
 (HPO:0000494) Downslanted palpebral fissures typical [HPO] 19619433 IBIS 328 / 7739
42
 (HPO:0000589) Coloboma rare [HPO:skoehler] 47 / 7739
43
 (HPO:0000639) Nystagmus occasional [HPO] 19619433 IBIS 555 / 7739
44
 (HPO:0000648) Optic atrophy rare [HPO] 238 / 7739
45
 (HPO:0000685) Hypoplasia of teeth 2% [HPO] 19619433 IBIS 12 / 7739
46
 (HPO:0001177) Preaxial hand polydactyly hallmark [HPO] 19619433 IBIS 59 / 7739
47
 (HPO:0001182) Tapered finger occasional [HPO] 19619433 IBIS 93 / 7739
48
 (HPO:0001250) Seizures 9/27 [HPO] 1491747 IBIS 1245 / 7739
49
 (HPO:0001290) Generalized hypotonia 20/23 [HPO] 1491747 IBIS 51 / 7739
50
 (HPO:0001508) Failure to thrive common [HPO] 19619433 IBIS 454 / 7739
51
 (HPO:0001510) Growth delay common [HPO] 19619433 IBIS 295 / 7739
52
 (HPO:0001537) Umbilical hernia frequent [HPO] 19619433 IBIS 206 / 7739
53
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
54
 (HPO:0001770) Toe syndactyly frequent [HPO] 19619433 IBIS 149 / 7739
55
 (HPO:0001830) Postaxial foot polydactyly hallmark [HPO] 19619433 IBIS 37 / 7739
56
 (HPO:0001841) Preaxial foot polydactyly hallmark [HPO] 19619433 IBIS 24 / 7739
57
 (HPO:0002007) Frontal bossing 23/26 [HPO] 1491747 IBIS 366 / 7739
58
 (HPO:0002023) Anal atresia 135 / 7739
59
 (HPO:0003196) Short nose typical [HPO] 19619433 IBIS 264 / 7739
60
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
61
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
62
 (HPO:0005148) Pulmonary valve defects 1 / 7739
63
 (HPO:0006101) Finger syndactyly frequent [HPO] 19619433 IBIS 198 / 7739
64
 (HPO:0007894) Hypopigmentation of the fundus 14 / 7739
65
 (HPO:0008897) Postnatal growth retardation 113 / 7739
66
 (HPO:0009611) Bifid distal phalanx of the thumb 15 / 7739
67
 (HPO:0009942) Duplication of thumb phalanx hallmark [HPO] 19619433 IBIS 2 / 7739
68
 (HPO:0010066) Duplication of phalanx of hallux hallmark [HPO] 19619433 IBIS 9 / 7739
69
 (HPO:0010576) Intracranial cystic lesion 10/27 [HPO] 1491747 IBIS 2 / 7739
70
 (HPO:0010864) Intellectual disability, severe 120 / 7739
71
 (HPO:0011220) Prominent forehead 137 / 7739
72
 (OMIM) Hypoplastic midface 2 / 7739
73
 (OMIM) Deep-set ears 1 / 7739
74
 (Orphanet:9200) Protruding lips 4 / 7739
75
 (MedDRA:10072883) Brachydactyly 153 / 7739
76
 (OMIM) Polydactyly, preaxial or postaxial 4 / 7739
77
 (OMIM) Duplicated halluces 2 / 7739
78
 (HPO:0001252) Muscular hypotonia 990 / 7739
79
 (HPO:0001324) Muscle weakness 859 / 7739
80
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
81
 (HPO:0010547) Muscle flaccidity 466 / 7739
82
 (OMIM) Molar tooth sign on brain MRI 2 / 7739
83
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
84
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
85
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
86
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
87
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
88
 (HPO:0001425) Heterogeneous 132 / 7739
89
 (HPO:0003812) Phenotypic variability 129 / 7739
90
 (HPO:0030680) Abnormality of cardiovascular system morphology 5/22 [HPO] 355 / 7739