Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0000973) Cutis laxa 43 / 7739
3
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
4
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
5
 (HPO:0011304) Broad thumb 39 / 7739
6
 (HPO:0001761) Pes cavus Occasional [Orphanet] 225 / 7739
7
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
8
 (HPO:0001840) Metatarsus adductus 49 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
11
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
12
 (HPO:0000023) Inguinal hernia 181 / 7739
13
 (HPO:0001769) Broad foot Frequent [Orphanet] 31 / 7739
14
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
15
 (HPO:0000278) Retrognathia 100 / 7739
16
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
17
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
18
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
19
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
20
 (HPO:0001816) Thin nail 11 / 7739
21
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
22
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
23
 (HPO:0000028) Cryptorchidism 347 / 7739
24
 (HPO:0001814) Deep-set nails 4 / 7739
25
 (HPO:0002002) Deep philtrum Frequent [Orphanet] 42 / 7739
26
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
27
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
28
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
29
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
30
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
31
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
32
 (HPO:0001176) Large hands Frequent [Orphanet] 43 / 7739
33
 (HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
34
 (HPO:0001249) Intellectual disability 1089 / 7739
35
 (HPO:0001263) Global developmental delay 853 / 7739
36
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
37
 (HPO:0000034) Hydrocele testis 18 / 7739
38
 (HPO:0100673) Vaginal hydrocele 8 / 7739
39
 (HPO:0000286) Epicanthus 371 / 7739
40
 (HPO:0000303) Mandibular prognathia 179 / 7739
41
 (HPO:0000400) Macrotia 108 / 7739
42
 (HPO:0000486) Strabismus 576 / 7739
43
 (HPO:0000708) Behavioral abnormality 212 / 7739
44
 (HPO:0000750) Delayed speech and language development 197 / 7739
45
 (HPO:0000773) Short ribs 70 / 7739
46
 (HPO:0001212) Prominent fingertip pads 12 / 7739
47
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
48
 (HPO:0001250) Seizures 1245 / 7739
49
 (HPO:0001252) Muscular hypotonia 990 / 7739
50
 (HPO:0001324) Muscle weakness 859 / 7739
51
 (HPO:0001260) Dysarthria 329 / 7739
52
 (HPO:0001331) Absent septum pellucidum 16 / 7739
53
 (HPO:0001350) Slurred speech 16 / 7739
54
 (HPO:0001377) Limited elbow extension 38 / 7739
55
 (HPO:0001537) Umbilical hernia 206 / 7739
56
 (HPO:0001540) Diastasis recti 23 / 7739
57
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
58
 (HPO:0001845) Overlapping toe 18 / 7739
59
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
60
 (HPO:0002673) Coxa valga 57 / 7739
61
 (HPO:0002808) Kyphosis 289 / 7739
62
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
63
 (HPO:0003066) Limited knee extension 4 / 7739
64
 (HPO:0003186) Inverted nipples 15 / 7739
65
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
66
 (HPO:0004689) Short fourth metatarsal 9 / 7739
67
 (HPO:0005280) Depressed nasal bridge 381 / 7739
68
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
69
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739
70
 (HPO:0008070) Sparse hair 94 / 7739
71
 (HPO:0009466) Radial deviation of finger 101 / 7739
72
 (HPO:0009473) Joint contracture of the hand 84 / 7739
73
 (HPO:0010751) Chin dimple 16 / 7739
74
 (HPO:0012385) Camptodactyly 113 / 7739
75
 (HPO:0200000) Dysharmonic bone age 3 / 7739
76
 (OMIM) Increased prenatal/postnatal length 1 / 7739
77
 (OMIM) Increased prenatal/postnatal weight 1 / 7739
78
 (OMIM) Weight more increased than height 1 / 7739
79
 (OMIM) Large bifrontal diameter 1 / 7739
80
 (OMIM) Flattened occiput 3 / 7739
81
 (OMIM) Round face in infancy 2 / 7739
82
 (OMIM) Prominent chin crease 1 / 7739
83
 (HPO:0002591) Polyphagia 25 / 7739
84
 (HPO:0003015) Flared metaphysis 44 / 7739
85
 (HPO:0003950) Flared elbow metaphyses 2 / 7739
86
 (MedDRA:10058668) Clinodactyly 91 / 7739
87
 (OMIM) Carpal bone development advanced over that of other hand bones 1 / 7739
88
 (OMIM) Prominent toe pads 1 / 7739
89
 (OMIM) Increased pigmented nevi 1 / 7739
90
 (OMIM) Thin, deep-set nails 2 / 7739
91
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
92
 (HPO:0010547) Muscle flaccidity 466 / 7739
93
 (OMIM) Seizures, tonic-clonic or absence (in some patients) 1 / 7739
94
 (OMIM) Coarse, low-pitched voice 1 / 7739
95
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
96
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
97
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
98
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
99
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
100
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
101
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
102
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
103
 (HPO:0002834) Flared femoral metaphysis 6 / 7739
104
 (HPO:0003911) Flared humeral metaphysis 3 / 7739
105
 (HPO:0010300) Abnormally low-pitched voice 2 / 7739
106
 (HPO:0030084) Clinodactyly 90 / 7739