Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
7
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
8
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
11
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
12
 (HPO:0010458) Female pseudohermaphroditism Very frequent [Orphanet] 17 / 7739
13
 (HPO:0009553) Abnormality of the hairline Occasional [Orphanet] 30 / 7739
14
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
15
 (HPO:0100720) Hypoplasia of the ear cartilage Very frequent [Orphanet] 12 / 7739
16
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
17
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
18
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
19
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
20
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
21
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
22
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
23
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
24
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
25
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
26
 (HPO:0000973) Cutis laxa 43 / 7739
27
 (HPO:0001582) Redundant skin Frequent [Orphanet] 51 / 7739
28
 (HPO:0001508) Failure to thrive 454 / 7739
29
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
30
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
31
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
32
 (HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
33
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
34
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
35
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
36
 (HPO:0000347) Micrognathia 426 / 7739
37
 (HPO:0000218) High palate 356 / 7739
38
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
39
 (HPO:0000028) Cryptorchidism 347 / 7739
40
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
41
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
42
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
43
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
44
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
45
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
46
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
47
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
48
 (HPO:0001263) Global developmental delay 853 / 7739
49
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
50
 (HPO:0000057) Clitoromegaly 30 / 7739
51
 (HPO:0000154) Wide mouth 137 / 7739
52
 (HPO:0000191) Accessory oral frenulum 6 / 7739
53
 (HPO:0000431) Wide nasal bridge 290 / 7739
54
 (HPO:0000803) Renal cortical cysts 3 / 7739
55
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
56
 (HPO:0001629) Ventricular septal defect 316 / 7739
57
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
58
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
59
 (HPO:0002240) Hepatomegaly 467 / 7739
60
 (HPO:0002650) Scoliosis 705 / 7739
61
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
62
 (HPO:0002827) Hip dislocation 94 / 7739
63
 (HPO:0003083) Dislocated radial head 35 / 7739
64
 (HPO:0006643) Fused sternal ossification centers 1 / 7739
65
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
66
 (HPO:0009100) Thick anterior alveolar ridges 1 / 7739
67
 (HPO:0004097) Deviation of finger 13 / 7739
68
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
69
 (HPO:0009466) Radial deviation of finger 101 / 7739
70
 (HPO:0010049) Short metacarpal 99 / 7739
71
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
72
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
73
 (OMIM) Oral frenula 3 / 7739
74
 (HPO:0000766) Abnormality of the sternum 31 / 7739
75
 (OMIM) Anomalous ribs 1 / 7739
76
 (OMIM) Short limbs 17 / 7739
77
 (HPO:0100259) Postaxial polydactyly 85 / 7739
78
 (MedDRA:10058668) Clinodactyly 91 / 7739
79
 (OMIM) Terminal transverse limb reduction 1 / 7739
80
 (HPO:0001159) Syndactyly 140 / 7739
81
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
82
 (HPO:0010547) Muscle flaccidity 466 / 7739
83
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
84
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
85
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
86
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
87
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
88
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
89
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
90
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
91
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
92
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
93
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
94
 (HPO:0030084) Clinodactyly 90 / 7739