Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0000733) Stereotypy Occasional [Orphanet] frequent [HPO:sdoelken] 58 / 7739
3
 (HPO:0000158) Macroglossia Frequent [Orphanet] typical [HPO:sdoelken] 119 / 7739
4
 (HPO:0010808) Protruding tongue typical [HPO:sdoelken] 28 / 7739
5
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] hallmark [HPO:sdoelken] 990 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739
7
 (HPO:0002020) Gastroesophageal reflux rare [HPO:sdoelken] 101 / 7739
8
 (HPO:0000717) Autism Frequent [Orphanet] frequent [HPO:sdoelken] 108 / 7739
9
 (HPO:0000741) Apathy very rare [HPO:sdoelken] 42 / 7739
10
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] typical [HPO:sdoelken] 179 / 7739
11
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
12
 (HPO:0002779) Tracheomalacia Occasional [Orphanet] 26 / 7739
13
 (HPO:0002786) Tracheobronchomalacia very rare [HPO:sdoelken] 4 / 7739
14
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
15
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
16
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] typical [HPO:sdoelken] 185 / 7739
17
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
18
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
19
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
20
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
21
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] typical [HPO:sdoelken] 305 / 7739
22
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
23
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] typical [HPO:sdoelken] 90 / 7739
24
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
25
 (HPO:0000718) Aggressive behavior frequent [HPO:sdoelken] 109 / 7739
26
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
27
 (HPO:0001250) Seizures Occasional [Orphanet] 30% [HPO:sdoelken] 1245 / 7739
28
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
29
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
30
 (HPO:0000054) Micropenis Occasional [Orphanet] frequent [HPO:sdoelken] 257 / 7739
31
 (HPO:0002714) Downturned corners of mouth Occasional [Orphanet] 98 / 7739
32
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] frequent [HPO:sdoelken] 113 / 7739
33
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
34
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
35
 (HPO:0000047) Hypospadias Occasional [Orphanet] frequent [HPO:sdoelken] 250 / 7739
36
 (HPO:0001513) Obesity Frequent [Orphanet] frequent [HPO:sdoelken] 19264732 IBIS 172 / 7739
37
 (HPO:0000252) Microcephaly Frequent [Orphanet] 8/22 [HPO:sdoelken] 19264732 IBIS 832 / 7739
38
 (HPO:0002607) Bowel incontinence Occasional [Orphanet] 33 / 7739
39
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
40
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] occasional [HPO:sdoelken] 309 / 7739
41
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
42
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] typical [HPO:sdoelken] 644 / 7739
43
 (HPO:0000695) Natal tooth Occasional [Orphanet] occasional [HPO:sdoelken] 42 / 7739
44
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
45
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
46
 (HPO:0000248) Brachycephaly Frequent [Orphanet] typical [HPO:sdoelken] 222 / 7739
47
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
48
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 3/22 [HPO:sdoelken] 19264732 IBIS 539 / 7739
49
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
50
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] frequent [HPO:sdoelken] 254 / 7739
51
 (HPO:0000664) Synophrys Frequent [Orphanet] typical [HPO:sdoelken] 112 / 7739
52
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
53
 (HPO:0001646) Abnormality of the aortic valve Frequent [Orphanet] 55 / 7739
54
 (HPO:0002558) Supernumerary nipple Occasional [Orphanet] 40 / 7739
55
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
56
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
57
 (HPO:0011262) Crimped helix Frequent [Orphanet] 12 / 7739
58
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
59
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
60
 (HPO:0001249) Intellectual disability hallmark [HPO:sdoelken] 1089 / 7739
61
 (HPO:0000280) Coarse facial features typical [HPO:sdoelken] 189 / 7739
62
 (HPO:0000722) Obsessive-compulsive behavior 35 / 7739
63
 (HPO:0000750) Delayed speech and language development typical [HPO:sdoelken] 197 / 7739
64
 (HPO:0000954) Single transverse palmar crease 162 / 7739
65
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
66
 (HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
67
 (HPO:0006335) Persistence of primary teeth occasional [HPO:sdoelken] 12 / 7739
68
 (HPO:0010806) U-Shaped upper lip vermilion typical [HPO:sdoelken] 18 / 7739
69
 (HPO:0010864) Intellectual disability, severe 120 / 7739
70
 (HPO:0012368) Flat face 106 / 7739
71
 (HPO:0000377) Abnormality of the pinna 111 / 7739
72
 (HPO:0001710) Conotruncal defect 3 / 7739
73
 (MedDRA:10072883) Brachydactyly 153 / 7739
74
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
75
 (HPO:0010547) Muscle flaccidity 466 / 7739
76
 (OMIM) Stereotypic movements 3 / 7739
77
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
78
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
79
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
80
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
81
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
82
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
83
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
84
 (HPO:0012581) Solitary renal cyst Occasional [Orphanet] 7 / 7739
85
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
86
 (HPO:0000028) Cryptorchidism frequent [HPO:sdoelken] 347 / 7739
87
 (HPO:0000272) Malar flattening typical [HPO:sdoelken] 277 / 7739
88
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
89
 (HPO:0003745) Sporadic 131 / 7739