Symptom Information: Sort according to HPO 

1
 (HPO:0001531) Failure to thrive in infancy Very frequent [IBIS] 100% (n=40) 16329078 IBIS 26 / 7739
2
 (HPO:0001508) Failure to thrive Very frequent [IBIS] 23429430 IBIS 454 / 7739
3
 (HPO:0000962) Hyperkeratosis Very frequent [IBIS] Very frequent [Orphanet] 15940703 IBIS 216 / 7739
4
 (HPO:0004322) Short stature Very frequent [IBIS] Very frequent [Orphanet] 21438134 IBIS 1232 / 7739
5
 (HPO:0001869) Deep plantar creases Very frequent [IBIS] 15940703 IBIS 14 / 7739
6
 (HPO:0006191) Deep palmar crease Very frequent [IBIS] 15940703 IBIS 16 / 7739
7
 (HPO:0001999) Abnormal facial shape Very frequent [IBIS] 23429430 IBIS 169 / 7739
8
 (HPO:0001561) Polyhydramnios Frequent [IBIS] Frequent [Orphanet] 87% (n=33) 16329078 IBIS 191 / 7739
9
 (HPO:0009465) Ulnar deviation of finger Frequent [IBIS] Frequent [Orphanet] 75% (n=33) 16329078 IBIS 48 / 7739
10
 (HPO:0001252) Muscular hypotonia Frequent [IBIS] 72% (n=33) 16329078 IBIS 990 / 7739
11
 (HPO:0001548) Overgrowth Frequent [IBIS] 65% (n=11) 19288554 IBIS 27 / 7739
12
 (HPO:0001639) Hypertrophic cardiomyopathy Frequent [IBIS] 47% (n=40) 16329078 IBIS 137 / 7739
13
 (HPO:0012740) Papilloma Frequent [IBIS] Frequent [Orphanet] 47% (n=40) 16329078 IBIS 17 / 7739
14
 (HPO:0000824) Growth hormone deficiency Frequent [IBIS] 45% (n=33) 16329078 IBIS 56 / 7739
15
 (HPO:0011675) Arrhythmia Frequent [IBIS] 42% (n=40) 16329078 IBIS 226 / 7739
16
 (HPO:0000639) Nystagmus Frequent [IBIS] 42% (n=33) 16329078 IBIS 555 / 7739
17
 (HPO:0001595) Abnormality of the hair Frequent [IBIS] Occasional [Orphanet] 23429430 IBIS 89 / 7739
18
 (HPO:0001382) Joint hypermobility Frequent [IBIS] Frequent [Orphanet] 14521568 IBIS 231 / 7739
19
 (HPO:0001249) Intellectual disability Frequent [IBIS] 21495179 IBIS 1089 / 7739
20
 (HPO:0000238) Hydrocephalus Frequent [IBIS] 23429430 IBIS 278 / 7739
21
 (HPO:0007099) Arnold-Chiari type I malformation Frequent [IBIS] 21495179 IBIS 18 / 7739
22
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [IBIS] 23429430 IBIS 355 / 7739
23
 (HPO:0002650) Scoliosis Frequent [IBIS] 15940703 IBIS 705 / 7739
24
 (HPO:0002020) Gastroesophageal reflux Frequent [IBIS] 15940703 IBIS 101 / 7739
25
 (HPO:0001520) Large for gestational age Frequent [IBIS] 17726614 IBIS 34 / 7739
26
 (HPO:0002664) Neoplasm Occasional [IBIS] 15% (n=40) 16329078 IBIS 111 / 7739
27
 (HPO:0000083) Renal insufficiency Rare [IBIS] rare [HPO:skoehler] 18039947 IBIS 232 / 7739
28
 (HPO:0000973) Cutis laxa 19288554 IBIS 43 / 7739
29
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 19288554 IBIS 51 / 7739
30
 (HPO:0000280) Coarse facial features Occasional [Orphanet] 21438134 IBIS 189 / 7739
31
 (HPO:0000158) Macroglossia Frequent [Orphanet] 12641690 IBIS 119 / 7739
32
 (HPO:0000358) Posteriorly rotated ears 21438134 IBIS 163 / 7739
33
 (HPO:0000369) Low-set ears 19288554 IBIS 372 / 7739
34
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 15940703 IBIS 147 / 7739
35
 (HPO:0001634) Mitral valve prolapse 17726614 IBIS 69 / 7739
36
 (HPO:0001642) Pulmonic stenosis 21438134 IBIS 89 / 7739
37
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 20979192 IBIS 40 / 7739
38
 (HPO:0000956) Acanthosis nigricans Very frequent [Orphanet] 8213898 IBIS 54 / 7739
39
 (HPO:0100550) Tendon rupture Frequent [Orphanet] 11146354 IBIS 17 / 7739
40
 (HPO:0000218) High palate 24668879 IBIS 356 / 7739
41
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 24668879 IBIS 308 / 7739
42
 (HPO:0001816) Thin nail 8213898 IBIS 11 / 7739
43
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 21438134 IBIS 381 / 7739
44
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 21438134 IBIS 298 / 7739
45
 (HPO:0009748) Large earlobe Occasional [Orphanet] 21438134 IBIS 27 / 7739
46
 (HPO:0000470) Short neck Very frequent [Orphanet] 19288554 IBIS 345 / 7739
47
 (HPO:0200043) Verrucae 25787333 IBIS 11 / 7739
48
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 21438134 IBIS 102 / 7739
49
 (HPO:0002015) Dysphagia Occasional [Orphanet] 15940703 IBIS 301 / 7739
50
 (HPO:0100729) Large face Occasional [Orphanet] 21438134 IBIS 19 / 7739
51
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 17726614 IBIS 316 / 7739
52
 (HPO:0000486) Strabismus Frequent [Orphanet] 21438134 IBIS 576 / 7739
53
 (HPO:0000286) Epicanthus Frequent [Orphanet] 21438134 IBIS 371 / 7739
54
 (HPO:0000953) Hyperpigmentation of the skin Occasional [Orphanet] 8213898 IBIS 75 / 7739
55
 (HPO:0001263) Global developmental delay 21438134 IBIS 853 / 7739
56
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 24246682 IBIS 250 / 7739
57
 (HPO:0000260) Wide anterior fontanel 19288554 IBIS 55 / 7739
58
 (HPO:0000463) Anteverted nares 22495892 IBIS 305 / 7739
59
 (HPO:0000508) Ptosis 21438134 IBIS 459 / 7739
60
 (HPO:0000768) Pectus carinatum 21438134 IBIS 136 / 7739
61
 (HPO:0001187) Hyperextensibility of the finger joints 14521568 IBIS 12 / 7739
62
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 8213898 IBIS 116 / 7739
63
 (HPO:0001609) Hoarse voice 9934987 IBIS 34 / 7739
64
 (HPO:0001622) Premature birth 19288554 IBIS 100 / 7739
65
 (HPO:0001631) Atria septal defect 17726614 IBIS 274 / 7739
66
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 17726614 IBIS 69 / 7739
67
 (HPO:0001641) Abnormality of the pulmonary valve Very frequent [Orphanet] 21438134 IBIS 27 / 7739
68
 (HPO:0001762) Talipes equinovarus 8186422 IBIS 309 / 7739
69
 (HPO:0001771) Achilles tendon contracture 21438134 IBIS 27 / 7739
70
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 8213898 IBIS 74 / 7739
71
 (HPO:0001808) Fragile nails 8213898 IBIS 21 / 7739
72
 (HPO:0001943) Hypoglycemia 21438134 IBIS 131 / 7739
73
 (HPO:0002021) Pyloric stenosis 18247425 IBIS 51 / 7739
74
 (HPO:0002059) Cerebral atrophy 14608654 IBIS 171 / 7739
75
 (HPO:0002093) Respiratory insufficiency 22926243 IBIS 410 / 7739
76
 (HPO:0002119) Ventriculomegaly 26246091 IBIS 253 / 7739
77
 (HPO:0002212) Curly hair 23429430 IBIS 21 / 7739
78
 (HPO:0002859) Rhabdomyosarcoma 24637993 IBIS 10 / 7739
79
 (HPO:0002862) Bladder carcinoma 24169525 IBIS 2 / 7739
80
 (HPO:0002870) Obstructive sleep apnea 21438134 IBIS 16 / 7739
81
 (HPO:0003764) Nevus 22098123 IBIS 17 / 7739
82
 (HPO:0008070) Sparse hair 21438134 IBIS 94 / 7739
83
 (HPO:0009588) Vestibular Schwannoma 11857556 IBIS 3 / 7739
84
 (OMIM) Posterior fossa crowding, progressive 21438134 IBIS 1 / 7739
85
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 24668879 IBIS 291 / 7739
86
 (HPO:0100692) Increased corneal curvature Frequent [Orphanet] 23494969 IBIS 13 / 7739
87
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 21438134; 19288554 IBIS 115 / 7739
88
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 21495179 IBIS 949 / 7739
89
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 21438134 IBIS 296 / 7739
90
 (HPO:0001638) Cardiomyopathy Frequent [Orphanet] 21438134 IBIS 192 / 7739
91
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 19288554 IBIS 492 / 7739
92
 (HPO:0001699) Sudden death 22926243 IBIS 34 / 7739
93
 (HPO:0000939) Osteoporosis 23429430 IBIS 129 / 7739
94
 (HPO:0011701) Multifocal atrial tachycardia 23429430 IBIS 7 / 7739
95
 (HPO:0003396) Syringomyelia 23429430 IBIS 16 / 7739
96
 (HPO:0011968) Feeding difficulties 23429430 IBIS 240 / 7739
97
 (HPO:0001250) Seizures 21438134 IBIS 1245 / 7739
98
 (HPO:0100543) Cognitive impairment 21438134 IBIS 230 / 7739
99
 (HPO:0002202) Pleural effusion 21438134 IBIS 22 / 7739
100
 (HPO:0000750) Delayed speech and language development 21495179 IBIS 197 / 7739
101
 (HPO:0001270) Motor delay 21438134 IBIS 322 / 7739
102
 (HPO:0005110) Atrial fibrillation 21438134 IBIS 71 / 7739
103
 (HPO:0001724) Aortic dilatation 21438134 IBIS 24 / 7739
104
 (HPO:0000527) Long eyelashes 21438134 IBIS 46 / 7739
105
 (HPO:0040169) Loose anagen hair 21438134 IBIS 2 / 7739
106
 (HPO:0000957) Cafe-au-lait spot 21438134 IBIS 84 / 7739
107
 (HPO:0001028) Hemangioma 21438134 IBIS 23 / 7739
108
 (HPO:0000767) Pectus excavatum 21438134 IBIS 244 / 7739
109
 (HPO:0006429) Broad femoral neck 21438134 IBIS 18 / 7739
110
 (HPO:0001388) Joint laxity 21438134 IBIS 117 / 7739
111
 (HPO:0001385) Hip dysplasia 21438134 IBIS 242 / 7739
112
 (HPO:0000823) Delayed puberty 21438134 IBIS 65 / 7739
113
 (HPO:0000028) Cryptorchidism 21438134 IBIS 347 / 7739
114
 (HPO:0001601) Laryngomalacia 21438134 IBIS 61 / 7739
115
 (HPO:0001998) Neonatal hypoglycemia 21438134 IBIS 22 / 7739
116
 (HPO:0000540) Hypermetropia 21438134 IBIS 99 / 7739
117
 (HPO:0002003) Large forehead 21438134 IBIS 9 / 7739
118
 (HPO:0000363) Abnormality of earlobe 21438134 IBIS 4 / 7739
119
 (HPO:0000154) Wide mouth 21438134 IBIS 137 / 7739
120
 (HPO:0000215) Thick upper lip vermilion 21438134 IBIS 17 / 7739
121
 (HPO:0000343) Long philtrum 21438134 IBIS 262 / 7739
122
 (HPO:0000289) Broad philtrum 21438134 IBIS 11 / 7739
123
 (HPO:0000331) Short chin 19288554 IBIS 33 / 7739
124
 (HPO:0030148) Heart murmur 19288554 IBIS 29 / 7739
125
 (HPO:0002240) Hepatomegaly 19288554 IBIS 467 / 7739
126
 (HPO:0005180) Tricuspid regurgitation 15940703 IBIS 20 / 7739
127
 (HPO:0000938) Osteopenia 15940703 IBIS 138 / 7739
128
 (HPO:0001761) Pes cavus 15940703 IBIS 225 / 7739
129
 (HPO:0001838) Rocker bottom foot 15940703 IBIS 85 / 7739
130
 (HPO:0002751) Kyphoscoliosis 15940703 IBIS 131 / 7739
131
 (HPO:0000483) Astigmatism 15940703 IBIS 67 / 7739
132
 (HPO:0000545) Myopia 15940703 IBIS 286 / 7739
133
 (HPO:0001260) Dysarthria 15940703 IBIS 329 / 7739