Symptom Information: Sort according to HPO 

1
 (HPO:0001249) Intellectual disability Very frequent [IBIS] 100% (n=27) 18039946 IBIS 1089 / 7739
2
 (HPO:0001252) Muscular hypotonia Very frequent [IBIS] Very frequent [Orphanet] 94% (n=36) 18039946 IBIS 990 / 7739
3
 (HPO:0002212) Curly hair Very frequent [IBIS] 92% (n=38) 18039946 IBIS 21 / 7739
4
 (HPO:0000280) Coarse facial features Very frequent [IBIS] Very frequent [Orphanet] 25180280 IBIS 189 / 7739
5
 (HPO:0000478) Abnormality of the eye Very frequent [IBIS] Very frequent [Orphanet] 25180280 IBIS 126 / 7739
6
 (HPO:0012758) Neurodevelopmental delay Very frequent [IBIS] Very frequent [Orphanet] 25180280 IBIS 949 / 7739
7
 (HPO:0001263) Global developmental delay Very frequent [IBIS] 18039946 IBIS 853 / 7739
8
 (HPO:0002194) Delayed gross motor development Very frequent [IBIS] 18039946 IBIS 37 / 7739
9
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [IBIS] Very frequent [Orphanet] 86% (n=35) 18039946 IBIS 117 / 7739
10
 (HPO:0008070) Sparse hair Frequent [IBIS] 84% (n=38) 18039946 IBIS 94 / 7739
11
 (HPO:0000486) Strabismus Frequent [IBIS] Frequent [Orphanet] 80% (n=35) 18039946 IBIS 576 / 7739
12
 (OMIM) Small external auditory canals Frequent [IBIS] 79% (n=29) 18039946 IBIS 2 / 7739
13
 (HPO:0003764) Nevus Frequent [IBIS] 76% (n=37) 18039946 IBIS 17 / 7739
14
 (HPO:0040180) Hyperkeratosis pilaris Frequent [IBIS] 73% (n=26) 18039946 IBIS 3 / 7739
15
 (HPO:0004322) Short stature Frequent [IBIS] Very frequent [Orphanet] 71% (n=38) 18039946 IBIS 1232 / 7739
16
 (HPO:0001626) Abnormality of the cardiovascular system Frequent [IBIS] 71% (n=38) 18039946 IBIS 73 / 7739
17
 (HPO:0000539) Abnormality of refraction Frequent [IBIS] 71% (n=28) 18039946 IBIS 6 / 7739
18
 (HPO:0000736) Short attention span Frequent [IBIS] 70% (n=33) 18039946 IBIS 16 / 7739
19
 (HPO:0001508) Failure to thrive Frequent [IBIS] 67% (n=36) 18039946 IBIS 454 / 7739
20
 (HPO:0000256) Macrocephaly Frequent [IBIS] Frequent [Orphanet] 64% (n=33) 18039946 IBIS 298 / 7739
21
 (HPO:0002015) Dysphagia Frequent [IBIS] 64% (n=31) 18039946 IBIS 301 / 7739
22
 (HPO:0001382) Joint hypermobility Frequent [IBIS] 63% (n=27) 18039946 IBIS 231 / 7739
23
 (HPO:0000766) Abnormality of the sternum Frequent [IBIS] 63% (n=29) 18039946 IBIS 31 / 7739
24
 (HPO:0000962) Hyperkeratosis Frequent [IBIS] Frequent [Orphanet] 61% (n=28) 18039946 IBIS 216 / 7739
25
 (HPO:0004396) Poor appetite Frequent [IBIS] 60% (n=35) 18039946 IBIS 7 / 7739
26
 (HPO:0002013) Vomiting Frequent [IBIS] 57% (n=37) 18039946 IBIS 191 / 7739
27
 (HPO:0011968) Feeding difficulties Frequent [IBIS] 56% (n=35) 18039946 IBIS 240 / 7739
28
 (HPO:0002020) Gastroesophageal reflux Frequent [IBIS] 55% (n=38) 18039946 IBIS 101 / 7739
29
 (HPO:0000389) Chronic otitis media Frequent [IBIS] 55% (n=31) 18039946 IBIS 64 / 7739
30
 (HPO:0004482) Relative macrocephaly Frequent [IBIS] 52% (n=33) 18039946 IBIS 44 / 7739
31
 (HPO:0001561) Polyhydramnios Frequent [IBIS] 52% (n=69) 26494162 IBIS 191 / 7739
32
 (HPO:0000737) Irritability Frequent [IBIS] 52% (n=33) 18039946 IBIS 93 / 7739
33
 (HPO:0030215) Inappropriate crying Frequent [IBIS] 50% (n=36) 18039946 IBIS 1 / 7739
34
 (HPO:0001622) Premature birth Frequent [IBIS] Frequent [Orphanet] 49% (n=38) 18039946 IBIS 100 / 7739
35
 (HPO:0001250) Seizures Frequent [IBIS] 49% (n=37) 18039946 IBIS 1245 / 7739
36
 (MedDRA:10065954) Stubbornness Frequent [IBIS] 48% (n=31) 18039946 IBIS 5 / 7739
37
 (HPO:0001028) Hemangioma Frequent [IBIS] 47% (n=32) 18039946 IBIS 23 / 7739
38
 (HPO:0000989) Pruritus Frequent [IBIS] 44% (n=34) 18039946 IBIS 111 / 7739
39
 (HPO:0001642) Pulmonic stenosis Frequent [IBIS] 42% (n=33) 18039946 IBIS 89 / 7739
40
 (HPO:0000587) Abnormality of the optic nerve Frequent [IBIS] 42% (n=26) 18039946 IBIS 5 / 7739
41
 (HPO:0000722) Obsessive-compulsive behavior Frequent [IBIS] 41% (n=32) 18039946 IBIS 35 / 7739
42
 (HPO:0001639) Hypertrophic cardiomyopathy Frequent [IBIS] 39% (n=33) 18039946 IBIS 137 / 7739
43
 (HPO:0003270) Abdominal distention Frequent [IBIS] 38% (n=32) 18039946 IBIS 46 / 7739
44
 (HPO:0000028) Cryptorchidism Frequent [IBIS] 38% (n=16) 18039946 IBIS 347 / 7739
45
 (HPO:0002650) Scoliosis Frequent [IBIS] Frequent [Orphanet] 33% (n=33) 18039946 IBIS 705 / 7739
46
 (HPO:0002750) Delayed skeletal maturation Frequent [IBIS] 33% (n=38) 18039946 IBIS 250 / 7739
47
 (HPO:0000545) Myopia Frequent [IBIS] Frequent [Orphanet] 18039946 IBIS 286 / 7739
48
 (HPO:0000767) Pectus excavatum Frequent [IBIS] Frequent [Orphanet] 18039946 IBIS 244 / 7739
49
 (HPO:0003196) Short nose Frequent [IBIS] Frequent [Orphanet] 25180280 IBIS 264 / 7739
50
 (HPO:0000357) Abnormal location of ears Frequent [IBIS] Frequent [Orphanet] 25180280 IBIS 328 / 7739
51
 (HPO:0000035) Abnormality of the testis Frequent [IBIS] Frequent [Orphanet] 18039946 IBIS 296 / 7739
52
 (HPO:0000768) Pectus carinatum Frequent [IBIS] 18039946 IBIS 136 / 7739
53
 (HPO:0000708) Behavioral abnormality Frequent [IBIS] 18039946 IBIS 212 / 7739
54
 (HPO:0002579) Gastrointestinal dysmotility Frequent [IBIS] 18039946 IBIS 11 / 7739
55
 (HPO:0000119) Abnormality of the genitourinary system Frequent [IBIS] 18039946 IBIS 34 / 7739
56
 (HPO:0000372) Abnormality of the auditory canal Frequent [IBIS] 18039946 IBIS 49 / 7739
57
 (HPO:0002360) Sleep disturbance Frequent [IBIS] 18039946 IBIS 113 / 7739
58
 (HPO:0010719) Abnormality of hair texture Frequent [IBIS] 18039946 IBIS 24 / 7739
59
 (HPO:0008064) Ichthyosis Occasional [IBIS] Frequent [Orphanet] 30% (n=27) 18039946 IBIS 108 / 7739
60
 (HPO:0001631) Atria septal defect Occasional [IBIS] Very frequent [Orphanet] 28% (n=33) 18039946 IBIS 274 / 7739
61
 (HPO:0000957) Cafe-au-lait spot Occasional [IBIS] Frequent [Orphanet] 27% (n=33) 18039946 IBIS 84 / 7739
62
 (HPO:0001047) Atopic dermatitis Occasional [IBIS] 27% (n=26) 18039946 IBIS 20 / 7739
63
 (HPO:0000718) Aggressive behavior Occasional [IBIS] 27% (n=34) 18039946 IBIS 109 / 7739
64
 (HPO:0002500) Abnormality of the cerebral white matter Occasional [IBIS] 26% (n=23) 18039946 IBIS 73 / 7739
65
 (HPO:0002808) Kyphosis Occasional [IBIS] 23% (n=26) 18039946 IBIS 289 / 7739
66
 (HPO:0000238) Hydrocephalus Occasional [IBIS] Occasional [Orphanet] 22% (n=32) 18039946 IBIS 278 / 7739
67
 (HPO:0001629) Ventricular septal defect Occasional [IBIS] 22% (n=33) 18039946 IBIS 316 / 7739
68
 (HPO:0010535) Sleep apnea Occasional [IBIS] 22% (n=36) 18039946 IBIS 24 / 7739
69
 (HPO:0001520) Large for gestational age Occasional [IBIS] 16% (n=69) 26494162 IBIS 34 / 7739
70
 (HPO:0001597) Abnormality of the nail Occasional [IBIS] 16% (n=38) 18039946 IBIS 115 / 7739
71
 (HPO:0001537) Umbilical hernia Occasional [IBIS] 16% (n=32) 18039946 IBIS 206 / 7739
72
 (HPO:0001682) Subaortic stenosis Occasional [IBIS] 15% (n=33) 18039946 IBIS 17 / 7739
73
 (HPO:0002059) Cerebral atrophy Occasional [IBIS] 13% (n=23) 18039946 IBIS 171 / 7739
74
 (HPO:0002188) Delayed CNS myelination Occasional [IBIS] 13% (n=23) 18039946 IBIS 16 / 7739
75
 (HPO:0010880) Increased nuchal translucency Occasional [IBIS] 13% (n=69) 26494162 IBIS 13 / 7739
76
 (HPO:0009553) Abnormality of the hairline Occasional [IBIS] 8% (n=38) 18039946 IBIS 30 / 7739
77
 (HPO:0002240) Hepatomegaly Occasional [IBIS] 8% (n=38) 18039946 IBIS 467 / 7739
78
 (HPO:0001004) Lymphedema Occasional [IBIS] Occasional [Orphanet] 26242988 IBIS 62 / 7739
79
 (HPO:0100703) Tongue thrusting Occasional [IBIS] 18039946 IBIS 4 / 7739
80
 (HPO:0000105) Enlarged kidneys Occasional [IBIS] 18039946 IBIS 30 / 7739
81
 (HPO:0001633) Abnormality of the mitral valve Occasional [IBIS] 18039946 IBIS 69 / 7739
82
 (HPO:0012469) Infantile spasms Occasional [IBIS] 18039946 IBIS 18 / 7739
83
 (HPO:0001251) Ataxia Occasional [IBIS] 18039946 IBIS 413 / 7739
84
 (HPO:0001680) Coarctation of aorta Rare [IBIS] 6% (n=33) 18039946 IBIS 57 / 7739
85
 (HPO:0012192) Cutaneous T-cell lymphoma Rare [IBIS] 6% (n=34) 18039946 IBIS 1 / 7739
86
 (HPO:0000023) Inguinal hernia Rare [IBIS] 6% (n=33) 18039946 IBIS 181 / 7739
87
 (HPO:0000126) Hydronephrosis Rare [IBIS] 5% (n=38) 18039946 IBIS 119 / 7739
88
 (HPO:0000824) Growth hormone deficiency Rare [IBIS] 5% (n=38) 18039946 IBIS 56 / 7739
89
 (HPO:0000653) Sparse eyelashes Rare [IBIS] 5% (n=38) 18039946 IBIS 58 / 7739
90
 (HPO:0007099) Arnold-Chiari type I malformation Rare [IBIS] 4% (n=23) 18039946 IBIS 18 / 7739
91
 (HPO:0002202) Pleural effusion Rare [IBIS] 3% (n=38) 18039946 IBIS 22 / 7739
92
 (HPO:0001646) Abnormality of the aortic valve Rare [IBIS] 3% (n=33) 18039946 IBIS 55 / 7739
93
 (HPO:0003477) Peripheral axonal neuropathy Rare [IBIS] rare [HPO:skoehler] 17437909 IBIS 62 / 7739
94
 (HPO:0001702) Abnormality of the tricuspid valve Rare [IBIS] 18039946 IBIS 32 / 7739
95
 (MedDRA:10064195) Right ventricle outflow tract obstruction Rare [IBIS] 18039946 IBIS 4 / 7739
96
 (HPO:0001269) Hemiparesis Rare [IBIS] 18039946 IBIS 51 / 7739
97
 (HPO:0000286) Epicanthus Frequent [Orphanet] 25180280 IBIS 371 / 7739
98
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 25180280 IBIS 644 / 7739
99
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 25180280 IBIS 96 / 7739
100
 (HPO:0000348) High forehead Frequent [Orphanet] 25180280 IBIS 157 / 7739
101
 (HPO:0000358) Posteriorly rotated ears 25180280 IBIS 163 / 7739
102
 (HPO:0000369) Low-set ears 25180280 IBIS 372 / 7739
103
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 25180280 IBIS 305 / 7739
104
 (HPO:0000465) Webbed neck Frequent [Orphanet] 20523244 IBIS 81 / 7739
105
 (HPO:0000470) Short neck Frequent [Orphanet] 25827862 IBIS 345 / 7739
106
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 25180280 IBIS 328 / 7739
107
 (HPO:0000508) Ptosis Frequent [Orphanet] 25180280 IBIS 459 / 7739
108
 (HPO:0000639) Nystagmus Frequent [Orphanet] 25180280 IBIS 555 / 7739
109
 (HPO:0000958) Dry skin Very frequent [Orphanet] 25180280 IBIS 152 / 7739
110
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 23950000 IBIS 366 / 7739
111
 (HPO:0002967) Cubitus valgus Occasional [Orphanet] 20523244 IBIS 49 / 7739
112
 (HPO:0004414) Abnormality of the pulmonary artery Very frequent [Orphanet] 23950000 IBIS 50 / 7739
113
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 16361753 IBIS 381 / 7739
114
 (HPO:0000953) Hyperpigmentation of the skin Frequent [Orphanet] 25180280 IBIS 75 / 7739
115
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 25180280 IBIS 36 / 7739
116
 (HPO:0000072) Hydroureter Occasional [Orphanet] 18039946 IBIS 146 / 7739
117
 (HPO:0100678) Premature skin wrinkling Very frequent [Orphanet] 8867661 IBIS 25 / 7739
118
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 25180280 IBIS 308 / 7739
119
 (HPO:0002299) Brittle hair Very frequent [Orphanet] 18039946 IBIS 52 / 7739
120
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 8867661 IBIS 219 / 7739
121
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 18039946 IBIS 156 / 7739
122
 (HPO:0012718) Morphological abnormality of the gastrointestinal tract Occasional [Orphanet] 15490149 IBIS 5 / 7739
123
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 25180280 IBIS 298 / 7739
124
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 25827862 IBIS 192 / 7739
125
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 24637312 IBIS 492 / 7739
126
 (HPO:0012719) Functional abnormality of the gastrointestinal tract Occasional [Orphanet] 15490149 IBIS 17 / 7739
127
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 8911596 IBIS 187 / 7739
128
 (HPO:0010720) Abnormal hair pattern Very requent [IBIS] Very frequent [Orphanet] 18039946 IBIS 14 / 7739
129
 (HPO:0000194) Open mouth 25180280 IBIS 70 / 7739
130
 (HPO:0000218) High palate 25180280 IBIS 356 / 7739
131
 (HPO:0000268) Dolichocephaly 25180280 IBIS 144 / 7739
132
 (HPO:0000347) Micrognathia 25827862 IBIS 426 / 7739
133
 (HPO:0000365) Hearing impairment 25180280 IBIS 539 / 7739
134
 (HPO:0000414) Bulbous nose 25180280 IBIS 63 / 7739
135
 (HPO:0000520) Proptosis 18039946 IBIS 192 / 7739
136
 (HPO:0000561) Absent eyelashes 16361753; 26494162 IBIS 18 / 7739
137
 (HPO:0000689) Dental malocclusion 22946697 IBIS 114 / 7739
138
 (HPO:0001048) Cavernous hemangioma 17551339 IBIS 28 / 7739
139
 (HPO:0001093) Optic nerve dysplasia 25180280 IBIS 6 / 7739
140
 (HPO:0001744) Splenomegaly 2596506 IBIS 337 / 7739
141
 (HPO:0002002) Deep philtrum 25180280 IBIS 42 / 7739
142
 (HPO:0002019) Constipation 15490149 IBIS 194 / 7739
143
 (HPO:0002223) Absent eyebrow 18039946 IBIS 21 / 7739
144
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 20395089 IBIS 180 / 7739
145
 (HPO:0008872) Feeding difficulties in infancy 15490149 IBIS 153 / 7739
146
 (HPO:0009908) Anterior creases of earlobe 25180280 IBIS 10 / 7739
147
 (HPO:0010807) Open bite 25180280 IBIS 6 / 7739
148
 (HPO:0011220) Prominent forehead 1915501 IBIS 137 / 7739
149
 (HPO:0002119) Ventriculomegaly 18039946 IBIS 253 / 7739
150
 (HPO:0000077) Abnormality of the kidney 18039946 IBIS 73 / 7739
151
 (HPO:0000076) Vesicoureteral reflux 18039946 IBIS 94 / 7739
152
 (HPO:0008751) Laryngeal cleft 25180280 IBIS 5 / 7739
153
 (HPO:0008404) Nail dystrophy 15186229 IBIS 89 / 7739
154
 (HPO:0002293) Alopecia of scalp 16361753 IBIS 9 / 7739
155
 (HPO:0001637) Abnormality of the myocardium 23950000 IBIS 76 / 7739