Symptom Information: Sort according to HPO 

1
(HPO:0001508) Failure to thrive 454 / 7739
2
(HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
3
(HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
4
(HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
5
(HPO:0001561) Polyhydramnios Frequent [Orphanet] 6/20 [HPO] 1671808 IBIS 191 / 7739
6
(HPO:0001302) Pachygyria 60 / 7739
7
(HPO:0001339) Lissencephaly 27/27 [HPO] 1671808 IBIS 30 / 7739
8
(HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
9
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 10/24 [HPO] 1671808 IBIS 288 / 7739
10
(HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
11
(HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
12
(HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
13
(HPO:0003196) Short nose Very frequent [Orphanet] 26/26 [HPO] 1671808 IBIS 264 / 7739
14
(HPO:0002079) Hypoplasia of the corpus callosum 17/23 [HPO] 1671808 IBIS 161 / 7739
15
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
16
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
17
(HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
18
(HPO:0000286) Epicanthus Very frequent [Orphanet] 8/22 [HPO] 1671808 IBIS 371 / 7739
19
(HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
20
(HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
21
(HPO:0000023) Inguinal hernia 181 / 7739
22
(HPO:0000028) Cryptorchidism 347 / 7739
23
(HPO:0000125) Pelvic kidney 10 / 7739
24
(HPO:0000175) Cleft palate 349 / 7739
25
(HPO:0000215) Thick upper lip vermilion 25/25 [HPO] 1671808 IBIS 17 / 7739
26
(HPO:0000219) Thin upper lip vermilion 112 / 7739
27
(HPO:0000252) Microcephaly 17/25 [HPO] 1671808 IBIS 832 / 7739
28
(HPO:0000347) Micrognathia 26/27 [HPO] 1671808 IBIS 426 / 7739
29
(HPO:0000358) Posteriorly rotated ears hallmark [HPO] 12621583 IBIS 163 / 7739
30
(HPO:0000369) Low-set ears 14/27 [HPO] 1671808 IBIS 372 / 7739
31
(HPO:0000431) Wide nasal bridge 24/25 [HPO] 1671808 IBIS 290 / 7739
32
(HPO:0000518) Cataract 454 / 7739
33
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
34
(HPO:0000684) Delayed eruption of teeth 117 / 7739
35
(HPO:0000954) Single transverse palmar crease 5/24 [HPO] 1671808 IBIS 162 / 7739
36
(HPO:0001249) Intellectual disability obligate [HPO] 1089 / 7739
37
(HPO:0001270) Motor delay obligate [HPO] 322 / 7739
38
(HPO:0001511) Intrauterine growth retardation 8/22 [HPO] 1671808 IBIS 358 / 7739
39
(HPO:0001558) Decreased fetal movement 74 / 7739
40
(HPO:0001626) Abnormality of the cardiovascular system Frequent [Orphanet] 73 / 7739
41
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
42
(HPO:0002007) Frontal bossing hallmark [HPO] 12621583 IBIS 366 / 7739
43
(HPO:0002100) Recurrent aspiration pneumonia 6 / 7739
44
(HPO:0002247) Duodenal atresia 13 / 7739
45
(HPO:0002282) Heterotopia 21 / 7739
46
(HPO:0002389) Cavum septum pellucidum 17/22 [HPO] 1671808 IBIS 13 / 7739
47
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
48
(HPO:0006191) Deep palmar crease 14/21 [HPO] 1671808 IBIS 16 / 7739
49
(HPO:0007020) Progressive spastic paraplegia 5 / 7739
50
(HPO:0007045) Midline brain calcifications 13/24 [HPO] 1671808 IBIS 1 / 7739
51
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
52
(HPO:0009473) Joint contracture of the hand 6/27 [HPO] 1671808 IBIS 84 / 7739
53
(HPO:0010442) Polydactyly 69 / 7739
54
(HPO:0012385) Camptodactyly 113 / 7739
55
(HPO:0012469) Infantile spasms 18 / 7739
56
(OMIM) Bitemporal hollowing 1 / 7739
57
(OMIM) Furrowing of forehead 1 / 7739
58
(OMIM) Upturned nares 4 / 7739
59
(HPO:0011951) Aspiration pneumonia 6 / 7739
60
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
61
(HPO:0000800) Cystic renal dysplasia 31 / 7739
62
(MedDRA:10058668) Clinodactyly 91 / 7739
63
(OMIM) Hypertonia late 3 / 7739
64
(MedDRA:10073345) Decorticate posture 1 / 7739
65
(MedDRA:10073346) Decerebrate posture 2 / 7739
66
(OMIM) Failure of opercularization of the frontal and temporal lobes on CT 1 / 7739
67
(OMIM) Cytogenetic deletion of chromosome 17p13.3 1 / 7739
68
(OMIM) Fluorescence in situ hybridization specific probe for MDS critical region 1 / 7739
69
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
70
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
71
(HPO:0000960) Sacral dimple 14/19 [HPO] 29 / 7739
72
(HPO:0001466) Contiguous gene syndrome 8 / 7739
73
(HPO:0030680) Abnormality of cardiovascular system morphology 6/27 [HPO] 355 / 7739