Symptom Information: Sort according to HPO 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000037) Male pseudohermaphroditism Occasional [Orphanet] 25 / 7739
3
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
4
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
5
 (HPO:0000252) Microcephaly Occasional [Orphanet] obligate [HPO:skoehler] 832 / 7739
6
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
7
 (HPO:0000331) Short chin typical [HPO:skoehler] 33 / 7739
8
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
9
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
10
 (HPO:0000627) Posterior embryotoxon Occasional [Orphanet] 15 / 7739
11
 (HPO:0000647) Sclerocornea Very frequent [Orphanet] 25 / 7739
12
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
13
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
14
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
15
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
16
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
17
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
18
 (HPO:0001631) Atria septal defect occasional [HPO:skoehler] 274 / 7739
19
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
20
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
21
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
22
 (HPO:0004322) Short stature Frequent [Orphanet] typical [HPO:skoehler] 1232 / 7739
23
 (HPO:0004327) Abnormality of the vitreous humor Frequent [Orphanet] 14 / 7739
24
 (HPO:0002079) Hypoplasia of the corpus callosum occasional [HPO:skoehler] 161 / 7739
25
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
26
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
27
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
28
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
29
 (HPO:0010458) Female pseudohermaphroditism Occasional [Orphanet] 17 / 7739
30
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
31
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
32
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
33
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
34
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
35
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
36
 (HPO:0001999) Abnormal facial shape Frequent [Orphanet] obligate [HPO:skoehler] 169 / 7739
37
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
38
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
39
 (HPO:0011265) Cleft earlobe Occasional [Orphanet] 12 / 7739
40
 (HPO:0000775) Abnormality of the diaphragm Very frequent [Orphanet] 62 / 7739
41
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
42
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
43
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
44
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
45
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
47
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
48
 (HPO:0001638) Cardiomyopathy Frequent [Orphanet] 192 / 7739
49
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
50
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
51
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
52
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
53
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
54
 (HPO:0000316) Hypertelorism typical [HPO:skoehler] 644 / 7739
55
 (HPO:0000343) Long philtrum occasional [HPO:skoehler] 262 / 7739
56
 (HPO:0000348) High forehead occasional [HPO:skoehler] 157 / 7739
57
 (HPO:0000358) Posteriorly rotated ears occasional [HPO:skoehler] 163 / 7739
58
 (HPO:0000505) Visual impairment occasional [HPO:skoehler] 297 / 7739
59
 (HPO:0000543) Optic disc pallor occasional [HPO:skoehler] 67 / 7739
60
 (HPO:0000545) Myopia occasional [HPO:skoehler] 286 / 7739
61
 (HPO:0001057) Aplasia cutis congenita obligate [HPO:skoehler] 7 / 7739
62
 (HPO:0001263) Global developmental delay typical [HPO:skoehler] 853 / 7739
63
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
64
 (HPO:0001636) Tetralogy of Fallot occasional [HPO:skoehler] 104 / 7739
65
 (HPO:0001714) Ventricular hypertrophy occasional [HPO:skoehler] 20 / 7739
66
 (HPO:0001852) Sandal gap occasional [HPO:skoehler] 63 / 7739
67
 (HPO:0002092) Pulmonary hypertension occasional [HPO:skoehler] 109 / 7739
68
 (HPO:0002553) Highly arched eyebrow occasional [HPO:skoehler] 92 / 7739
69
 (HPO:0003196) Short nose occasional [HPO:skoehler] 264 / 7739
70
 (HPO:0006610) Wide intermamillary distance occasional [HPO:skoehler] 46 / 7739
71
 (HPO:0012448) Delayed myelination occasional [HPO:skoehler] 51 / 7739