Symptom Information: Sort according to HPO 

1
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
2
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
3
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
4
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
5
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
6
 (HPO:0003103) Abnormal cortical bone morphology Frequent [Orphanet] 38 / 7739
7
 (HPO:0000369) Low-set ears 372 / 7739
8
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] 52 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
11
 (HPO:0100581) Megacalicosis Occasional [Orphanet] 1 / 7739
12
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 85 / 7739
13
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
14
 (HPO:0003027) Mesomelia Occasional [Orphanet] 58 / 7739
15
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
16
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
17
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
18
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
19
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
20
 (HPO:0000126) Hydronephrosis 119 / 7739
21
 (HPO:0004331) Decreased skull ossification Frequent [Orphanet] 31 / 7739
22
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
23
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
24
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
25
 (HPO:0000522) Alacrima Occasional [Orphanet] 14 / 7739
26
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
27
 (HPO:0000076) Vesicoureteral reflux Very frequent [Orphanet] 94 / 7739
28
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
29
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
30
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
31
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
32
 (MedDRA:10059810) Sacrococcygeal teratoma 1 / 7739
33
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
34
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
35
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
36
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
37
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
38
 (HPO:0000064) Hypoplastic labia minora 7 / 7739
39
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
40
 (HPO:0001508) Failure to thrive 454 / 7739
41
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
42
 (HPO:0011220) Prominent forehead 137 / 7739
43
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
44
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
45
 (HPO:0000998) Hypertrichosis 52 / 7739
46
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
47
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
48
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
49
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
50
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
51
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
52
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
53
 (HPO:0000452) Choanal stenosis 23 / 7739
54
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
55
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
56
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
57
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
58
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
59
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
60
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
61
 (HPO:0001249) Intellectual disability 1089 / 7739
62
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
63
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
64
 (HPO:0000071) Ureteral stenosis 9 / 7739
65
 (HPO:0000329) Facial hemangioma 5 / 7739
66
 (HPO:0000340) Sloping forehead 86 / 7739
67
 (HPO:0000348) High forehead 157 / 7739
68
 (HPO:0000586) Shallow orbits 23 / 7739
69
 (HPO:0000813) Bicornuate uterus 22 / 7739
70
 (HPO:0000879) Short sternum 16 / 7739
71
 (HPO:0000885) Broad ribs 21 / 7739
72
 (HPO:0000890) Long clavicles 13 / 7739
73
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
74
 (HPO:0000954) Single transverse palmar crease 162 / 7739
75
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
76
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
77
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
78
 (HPO:0001631) Atria septal defect 274 / 7739
79
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
80
 (HPO:0001773) Short foot Occasional [Orphanet] 86 / 7739
81
 (HPO:0001795) Hyperconvex nail 13 / 7739
82
 (HPO:0002059) Cerebral atrophy 171 / 7739
83
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
84
 (HPO:0002179) Opisthotonus 35 / 7739
85
 (HPO:0002521) Hypsarrhythmia 43 / 7739
86
 (HPO:0002557) Hypoplastic nipples 33 / 7739
87
 (HPO:0002694) Sclerosis of skull base 10 / 7739
88
 (HPO:0002884) Hepatoblastoma 11 / 7739
89
 (HPO:0002982) Tibial bowing 36 / 7739
90
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
91
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
92
 (HPO:0005495) Metopic suture patent to nasal root 1 / 7739
93
 (HPO:0006387) Wide distal femoral metaphysis 1 / 7739
94
 (HPO:0006392) Increased density of long bones 1 / 7739
95
 (HPO:0006657) Hypoplasia of first ribs 3 / 7739
96
 (HPO:0008897) Postnatal growth retardation 113 / 7739
97
 (HPO:0009104) Aplasia/Hypoplasia of the pubic bone 2 / 7739
98
 (HPO:0009792) Teratoma Occasional [Orphanet] 7 / 7739
99
 (HPO:0010034) Short 1st metacarpal 19 / 7739
100
 (OMIM) Metopic suture extends to nasal root 1 / 7739
101
 (OMIM) High, protruding forehead 1 / 7739
102
 (OMIM) Deep interlabial sulcus 1 / 7739
103
 (OMIM) Hymenal atresia 1 / 7739
104
 (OMIM) Short perineum 1 / 7739
105
 (OMIM) Steep short base of skull 1 / 7739
106
 (OMIM) Sclerotic skull base 3 / 7739
107
 (OMIM) Wide occipital synchondrosis 1 / 7739
108
 (OMIM) Mesomelic brachymelia 1 / 7739
109
 (OMIM) Hypoplastic dermal ridges 2 / 7739
110
 (HPO:0100259) Postaxial polydactyly 85 / 7739
111
 (OMIM) Fifth toe overlapping fourth 1 / 7739
112
 (HPO:0002898) Embryonal neoplasm 6 / 7739
113
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
114
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
115
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
116
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
117
 (HPO:0012815) Hypoplastic female external genitalia Very frequent [Orphanet] 36 / 7739
118
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
119
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
120
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
121
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
122
 (HPO:0011849) Abnormal bone ossification Frequent [Orphanet] 35 / 7739
123
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
124
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
125
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
126
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
127
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
128
 (HPO:0000272) Malar flattening 277 / 7739