Symptom Information: Sort according to HPO 

1
(HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
2
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
(HPO:0000369) Low-set ears 372 / 7739
5
(HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
6
(HPO:0000960) Sacral dimple 29 / 7739
7
(HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
8
(HPO:0001257) Spasticity 251 / 7739
9
(HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
10
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
11
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
12
(HPO:0000278) Retrognathia 100 / 7739
13
(HPO:0000347) Micrognathia 426 / 7739
14
(HPO:0000218) High palate 356 / 7739
15
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
16
(HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
17
(HPO:0005469) Flat occiput 30 / 7739
18
(HPO:0000325) Triangular face Occasional [Orphanet] 91 / 7739
19
(HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
20
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
21
(HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
22
(HPO:0000365) Hearing impairment Frequent [Orphanet] rare [HPO:skoehler] 539 / 7739
23
(HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
24
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
25
(HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
26
(HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
27
(HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
28
(HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
29
(HPO:0001250) Seizures Occasional [Orphanet] rare [HPO:skoehler] 1245 / 7739
30
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
31
(HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
32
(HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
33
(HPO:0001674) Complete atrioventricular canal defect 11 / 7739
34
(HPO:0006695) Atrioventricular canal defect Frequent [Orphanet] rare [HPO:skoehler] 27 / 7739
35
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
36
(HPO:0004467) Preauricular pit 39 / 7739
37
(HPO:0009796) Branchial cyst Occasional [Orphanet] 32 / 7739
38
(HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
39
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
40
(HPO:0000243) Trigonocephaly 40 / 7739
41
(HPO:0000426) Prominent nasal bridge rare [HPO:skoehler] 121 / 7739
42
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
43
(HPO:0000629) Periorbital fullness 13 / 7739
44
(HPO:0000664) Synophrys 112 / 7739
45
(HPO:0001104) Macular hypoplasia rare [HPO:skoehler] 9 / 7739
46
(HPO:0005280) Depressed nasal bridge 381 / 7739
47
(HPO:0005487) Prominent metopic ridge 28 / 7739
48
(HPO:0008897) Postnatal growth retardation 113 / 7739
49
(HPO:0011968) Feeding difficulties 240 / 7739
50
(HPO:0012210) Abnormal renal morphology rare [HPO:skoehler] 18 / 7739
51
(HPO:0100259) Postaxial polydactyly 85 / 7739
52
(OMIM) Low birthweight 1 / 7739
53
(OMIM) Poorly shaped ears 1 / 7739
54
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
55
(OMIM) Muscle hypertonicity 2 / 7739
56
(OMIM) Psychomotor retardation, severe to profound 1 / 7739
57
(HPO:0001327) Photomyoclonic seizures 125 / 7739
58
(OMIM) Contiguous gene deletion syndrome 23 / 7739
59
(HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
60
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
61
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
62
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
63
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
64
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
65
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
66
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739