Symptom Information: Sort according to HPO 

1
 (HPO:0010719) Abnormality of hair texture Frequent [Orphanet] common [HPO] 24 / 7739
2
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
6
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] typical [HPO] 197 / 7739
7
 (HPO:0000175) Cleft palate rare [HPO] 349 / 7739
8
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
9
 (HPO:0005599) Hypopigmentation of hair Frequent [Orphanet] 38 / 7739
10
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
11
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
12
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] typical [HPO] 185 / 7739
13
 (HPO:0002650) Scoliosis Occasional [Orphanet] frequent [HPO] 705 / 7739
14
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
15
 (HPO:0000126) Hydronephrosis 119 / 7739
16
 (HPO:0000348) High forehead Frequent [Orphanet] typical [HPO] 157 / 7739
17
 (HPO:0009928) Thick nasal alae Occasional [Orphanet] 21 / 7739
18
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
19
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] typical [HPO] 90 / 7739
20
 (HPO:0000396) Overfolded helix 21 / 7739
21
 (HPO:0001250) Seizures Frequent [Orphanet] 55% [HPO] 1245 / 7739
22
 (HPO:0001166) Arachnodactyly 61 % [HPO:skoehler] 62 / 7739
23
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
24
 (HPO:0000414) Bulbous nose typical [HPO] 63 / 7739
25
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 38 % [HPO:skoehler] 253 / 7739
26
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
27
 (HPO:0000252) Microcephaly Occasional [Orphanet] rare [HPO] 832 / 7739
28
 (HPO:0000275) Narrow face 76 / 7739
29
 (HPO:0000276) Long face Frequent [Orphanet] 74 % [HPO:skoehler] 109 / 7739
30
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] occasional [HPO] 244 / 7739
31
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
32
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
33
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
34
 (HPO:0001611) Nasal speech common [HPO] 48 / 7739
35
 (HPO:0000189) Narrow palate common [HPO] 45 / 7739
36
 (HPO:0000218) High palate common [HPO] 356 / 7739
37
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 50 % [HPO:skoehler] 308 / 7739
38
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] frequent [HPO] 242 / 7739
39
 (HPO:0002827) Hip dislocation frequent [HPO] 94 / 7739
40
 (HPO:0000518) Cataract Occasional [Orphanet] rare [HPO] 454 / 7739
41
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
42
 (HPO:0000430) Underdeveloped nasal alae Occasional [Orphanet] 90 / 7739
43
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
44
 (HPO:0000508) Ptosis Occasional [Orphanet] typical [HPO] 459 / 7739
45
 (HPO:0001488) Bilateral ptosis 42 / 7739
46
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
47
 (HPO:0002808) Kyphosis Occasional [Orphanet] frequent [HPO] 289 / 7739
48
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
49
 (HPO:0000540) Hypermetropia Frequent [Orphanet] frequent [HPO] 99 / 7739
50
 (HPO:0008499) High-grade hypermetropia 14 / 7739
51
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
52
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
53
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
54
 (HPO:0000337) Broad forehead Frequent [Orphanet] typical [HPO] 116 / 7739
55
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
56
 (HPO:0004322) Short stature Occasional [Orphanet] occasional [HPO] 1232 / 7739
57
 (HPO:0000486) Strabismus Frequent [Orphanet] frequent [HPO] 576 / 7739
58
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] rare [HPO] 51 / 7739
59
 (HPO:0000286) Epicanthus Frequent [Orphanet] typical [HPO] 371 / 7739
60
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] common [HPO] 231 / 7739
61
 (HPO:0001249) Intellectual disability 1089 / 7739
62
 (HPO:0001263) Global developmental delay hallmark [HPO] 853 / 7739
63
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
64
 (HPO:0000194) Open mouth 70 / 7739
65
 (HPO:0000204) Cleft upper lip 193 / 7739
66
 (HPO:0000400) Macrotia typical [HPO] 108 / 7739
67
 (HPO:0000447) Pear-shaped nose typical [HPO] 5 / 7739
68
 (HPO:0000601) Hypotelorism rare [HPO] 83 / 7739
69
 (HPO:0000687) Widely spaced teeth 40 / 7739
70
 (HPO:0000750) Delayed speech and language development typical [HPO] 197 / 7739
71
 (HPO:0000960) Sacral dimple 29 / 7739
72
 (HPO:0000964) Eczema 81 / 7739
73
 (HPO:0001212) Prominent fingertip pads common [HPO] 12 / 7739
74
 (HPO:0001290) Generalized hypotonia hallmark [HPO] 51 / 7739
75
 (HPO:0001508) Failure to thrive 454 / 7739
76
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
77
 (HPO:0001518) Small for gestational age occasional [HPO] 107 / 7739
78
 (HPO:0001629) Ventricular septal defect 316 / 7739
79
 (HPO:0001631) Atria septal defect 274 / 7739
80
 (HPO:0001642) Pulmonic stenosis 89 / 7739
81
 (HPO:0001724) Aortic dilatation rare [HPO:skoehler] 24 / 7739
82
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
83
 (HPO:0002465) Poor speech 31 / 7739
84
 (HPO:0002948) Vertebral fusion rare [HPO] 28 / 7739
85
 (HPO:0003302) Spondylolisthesis rare [HPO] 14 / 7739
86
 (HPO:0004283) Narrow palm frequent [HPO] 8 / 7739
87
 (HPO:0005487) Prominent metopic ridge rare [HPO] 28 / 7739
88
 (HPO:0005656) Positional foot deformity frequent [HPO] 2 / 7739
89
 (HPO:0006006) Hypotrophy of the small hand muscles frequent [HPO] 4 / 7739
90
 (HPO:0006610) Wide intermamillary distance 46 / 7739
91
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
92
 (HPO:0011822) Broad chin 42 % [HPO:skoehler] 1 / 7739
93
 (HPO:0100024) Conspicuously happy disposition typical [HPO] 5 / 7739
94
 (OMIM) High, broad forehead 4 / 7739
95
 (OMIM) Anteverted ears 5 / 7739
96
 (OMIM) Pale irides (45%) 1 / 7739
97
 (OMIM) Tubular nose 3 / 7739
98
 (OMIM) Small and widely spaced teeth 4 / 7739
99
 (OMIM) Heart defect 2 / 7739
100
 (OMIM) Kidney/urologic anomalies (32%) 1 / 7739
101
 (OMIM) Duplex renal system 1 / 7739
102
 (OMIM) Hypermobile joints 3 / 7739
103
 (OMIM) Scoliosis/kyphosis (36%) 1 / 7739
104
 (HPO:0001373) Joint dislocation 59 / 7739
105
 (HPO:0002999) Patellar dislocation 46 / 7739
106
 (HPO:0003042) Elbow dislocation 89 / 7739
107
 (HPO:0003179) Protrusio acetabuli 37 / 7739
108
 (HPO:0003834) Shoulder dislocation 28 / 7739
109
 (HPO:0003994) Dislocated wrist 24 / 7739
110
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
111
 (HPO:0012095) Multiple joint dislocation 24 / 7739
112
 (OMIM) Slender lower limbs (41%) 1 / 7739
113
 (OMIM) Hypoplasia of the hand muscles 2 / 7739
114
 (OMIM) Pigmentary abnormalities 3 / 7739
115
 (OMIM) Abnormal hair pigmentation (55%) 1 / 7739
116
 (MedDRA:10019049) Hair texture abnormal 1 / 7739
117
 (OMIM) Mental retardation, mild to severe 14 / 7739
118
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
119
 (HPO:0010547) Muscle flaccidity 466 / 7739
120
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
121
 (OMIM) Friendly behavior (89%) 1 / 7739
122
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
123
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
124
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
125
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
126
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
127
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
128
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
129
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
130
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
131
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
132
 (HPO:0000028) Cryptorchidism 71% [HPO] 347 / 7739
133
 (HPO:0001466) Contiguous gene syndrome 8 / 7739
134
 (HPO:0003745) Sporadic 131 / 7739
135
 (HPO:0003828) Variable expressivity 130 / 7739
136
 (HPO:0008872) Feeding difficulties in infancy common [HPO] 153 / 7739
137
 (HPO:0040080) Anteverted ears 6 / 7739