Symptom Information: Sort according to HPO 

1
 (HPO:0004322) Short stature Very frequent [IBIS] Very frequent [Orphanet] 24124081 IBIS 1232 / 7739
2
 (HPO:0002162) Low posterior hairline Very frequent [IBIS] Very frequent [Orphanet] 12673660; 19684605 IBIS 88 / 7739
3
 (HPO:0002750) Delayed skeletal maturation Very frequent [IBIS] Very frequent [Orphanet] 12673660 IBIS 250 / 7739
4
 (HPO:0000256) Macrocephaly Very frequent [IBIS] 12673660; 19684605 IBIS 298 / 7739
5
 (HPO:0000357) Abnormal location of ears Very frequent [IBIS] Very frequent [Orphanet] 12673660 IBIS 328 / 7739
6
 (HPO:0040169) Loose anagen hair Very frequent [IBIS] 24124081; 19684605 IBIS 2 / 7739
7
 (HPO:0008070) Sparse hair Very frequent [IBIS] 24124081; 19684605 IBIS 94 / 7739
8
 (HPO:0000767) Pectus excavatum Frequent [IBIS] Frequent [Orphanet] 12673660 IBIS 244 / 7739
9
 (HPO:0000238) Hydrocephalus Frequent [IBIS] Frequent [Orphanet] 12673660 IBIS 278 / 7739
10
 (HPO:0000465) Webbed neck Frequent [IBIS] Very frequent [Orphanet] 19684605 IBIS 81 / 7739
11
 (HPO:0000286) Epicanthus Frequent [IBIS] Frequent [Orphanet] 12673660 IBIS 371 / 7739
12
 (HPO:0007018) Attention deficit hyperactivity disorder Frequent [IBIS] 24124081; 19684605 IBIS 56 / 7739
13
 (HPO:0000824) Growth hormone deficiency Frequent [IBIS] 24124081 IBIS 56 / 7739
14
 (HPO:0000035) Abnormality of the testis Occasional [IBIS] Occasional [Orphanet] 19684605 IBIS 296 / 7739
15
 (HPO:0001642) Pulmonic stenosis 19684605 IBIS 89 / 7739
16
 (HPO:0000358) Posteriorly rotated ears 12673660 IBIS 163 / 7739
17
 (HPO:0000369) Low-set ears 12673660 IBIS 372 / 7739
18
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 19684605 IBIS 644 / 7739
19
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 12673660 IBIS 308 / 7739
20
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 12673660 IBIS 305 / 7739
21
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 25331583 IBIS 219 / 7739
22
 (HPO:0002209) Sparse scalp hair 12673660 IBIS 59 / 7739
23
 (HPO:0001249) Intellectual disability 19684605 IBIS 1089 / 7739
24
 (HPO:0001639) Hypertrophic cardiomyopathy 19684605 IBIS 137 / 7739
25
 (HPO:0000470) Short neck 19684605 IBIS 345 / 7739
26
 (HPO:0000486) Strabismus 12673660 IBIS 576 / 7739
27
 (HPO:0000752) Hyperactivity 12673660 IBIS 140 / 7739
28
 (HPO:0000964) Eczema rare [HPO:skoehler] 24124081 IBIS 81 / 7739
29
 (HPO:0001047) Atopic dermatitis 12673660 IBIS 20 / 7739
30
 (HPO:0001611) Nasal speech rare [HPO:skoehler] 24124081 IBIS 48 / 7739
31
 (HPO:0001629) Ventricular septal defect 19684605 IBIS 316 / 7739
32
 (HPO:0001631) Atria septal defect 19684605 IBIS 274 / 7739
33
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 9301585 IBIS 50 / 7739
34
 (HPO:0008064) Ichthyosis rare [HPO:skoehler] 24124081 IBIS 108 / 7739
35
 (HPO:0011220) Prominent forehead 12673660 IBIS 137 / 7739
36
 (OMIM) Mitral/tricuspid valve dysplasia 19684605 IBIS 1 / 7739
37
 (OMIM) Darkly pigmented skin 12673660 IBIS 1 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 12673660 IBIS 949 / 7739
39
 (HPO:0001638) Cardiomyopathy Frequent [Orphanet] 19684605 IBIS 192 / 7739
40
 (HPO:0008897) Postnatal growth retardation 24124081 IBIS 113 / 7739
41
 (HPO:0030680) Abnormality of cardiovascular system morphology 24124081 IBIS 355 / 7739
42
 (HPO:0001263) Global developmental delay 24124081 IBIS 853 / 7739
43
 (HPO:0002217) Slow-growing hair 24124081 IBIS 22 / 7739
44
 (HPO:0011968) Feeding difficulties 12673660 IBIS 240 / 7739
45
 (HPO:0002013) Vomiting 12673660 IBIS 191 / 7739
46
 (HPO:0002020) Gastroesophageal reflux 12673660 IBIS 101 / 7739
47
 (HPO:0002036) Hiatus hernia 12673660 IBIS 24 / 7739
48
 (HPO:0000348) High forehead 12673660 IBIS 157 / 7739
49
 (HPO:0001090) Large eyes 12673660 IBIS 20 / 7739
50
 (HPO:0000508) Ptosis 12673660; 19684605 IBIS 459 / 7739
51
 (HPO:0000422) Abnormality of the nasal bridge 12673660 IBIS 2 / 7739
52
 (HPO:0000278) Retrognathia 12673660 IBIS 100 / 7739
53
 (HPO:0000347) Micrognathia 12673660 IBIS 426 / 7739
54
 (HPO:0000475) Broad neck 12673660 IBIS 12 / 7739
55
 (HPO:0005989) Redundant neck skin 12673660 IBIS 40 / 7739
56
 (HPO:0001537) Umbilical hernia 12673660 IBIS 206 / 7739
57
 (HPO:0011300) Broad fingertip 12673660 IBIS 2 / 7739
58
 (HPO:0006610) Wide intermamillary distance 12673660 IBIS 46 / 7739
59
 (HPO:0001382) Joint hypermobility 12673660 IBIS 231 / 7739
60
 (HPO:0000821) Hypothyroidism 12673660 IBIS 141 / 7739
61
 (HPO:0000961) Cyanosis 12673660 IBIS 60 / 7739
62
 (HPO:0008947) Infantile muscular hypotonia 12673660 IBIS 482 / 7739
63
 (HPO:0001510) Growth delay 12673660 IBIS 295 / 7739
64
 (HPO:0000268) Dolichocephaly 12673660 IBIS 144 / 7739
65
 (HPO:0002650) Scoliosis 12673660 IBIS 705 / 7739
66
 (HPO:0002280) Enlarged cisterna magna 12673660 IBIS 12 / 7739
67
 (HPO:0002901) Hypocalcemia 12673660 IBIS 56 / 7739
68
 (HPO:0002917) Hypomagnesemia 12673660 IBIS 19 / 7739
69
 (HPO:0001943) Hypoglycemia 12673660 IBIS 131 / 7739
70
 (HPO:0002516) Increased intracranial pressure 12673660 IBIS 47 / 7739
71
 (HPO:0001714) Ventricular hypertrophy 12673660 IBIS 20 / 7739
72
 (HPO:0002119) Ventriculomegaly 12673660 IBIS 253 / 7739
73
 (HPO:0002308) Arnold-Chiari malformation 12673660 IBIS 42 / 7739
74
 (HPO:0000539) Abnormality of refraction 19684605 IBIS 6 / 7739
75
 (HPO:0001928) Abnormality of coagulation 19684605 IBIS 44 / 7739
76
 (HPO:0001609) Hoarse voice 19684605 IBIS 34 / 7739
77
 (HPO:0001999) Abnormal facial shape 12673660 IBIS 169 / 7739
78
 (HPO:0000953) Hyperpigmentation of the skin 12673660 IBIS 75 / 7739
79
 (HPO:0001531) Failure to thrive in infancy 25846317 IBIS 26 / 7739