Symptom Information: Sort according to HPO 

1
 (HPO:0001135) Chorioretinal dystrophy 18 / 7739
2
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
5
 (HPO:0001634) Mitral valve prolapse 69 / 7739
6
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
7
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
8
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
9
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
10
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
11
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
12
 (HPO:0000648) Optic atrophy 238 / 7739
13
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
14
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
15
 (HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
16
 (HPO:0001557) Prenatal movement abnormality Frequent [Orphanet] 16 / 7739
17
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
18
 (HPO:0001875) Neutropenia 83 / 7739
19
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
20
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
22
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
23
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
24
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
25
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
26
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
27
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
28
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
29
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
30
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
31
 (HPO:0000294) Low anterior hairline Very frequent [Orphanet] 52 / 7739
32
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
33
 (HPO:0002967) Cubitus valgus Frequent [Orphanet] 49 / 7739
34
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
35
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
36
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
37
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
38
 (HPO:0000823) Delayed puberty 65 / 7739
39
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
40
 (HPO:0001833) Long foot Very frequent [Orphanet] 33 / 7739
41
 (HPO:0000171) Microglossia Very frequent [Orphanet] 27 / 7739
42
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
43
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
44
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
45
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
46
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
47
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
48
 (HPO:0001572) Macrodontia Frequent [Orphanet] 9 / 7739
49
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
50
 (HPO:0001249) Intellectual disability 1089 / 7739
51
 (HPO:0001270) Motor delay 322 / 7739
52
 (HPO:0000297) Facial hypotonia 8 / 7739
53
 (HPO:0000444) Convex nasal ridge 87 / 7739
54
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
55
 (HPO:0000505) Visual impairment 297 / 7739
56
 (HPO:0000675) Macrodontia of permanent maxillary central incisor 7 / 7739
57
 (HPO:0000824) Growth hormone deficiency 56 / 7739
58
 (HPO:0000954) Single transverse palmar crease 162 / 7739
59
 (HPO:0001319) Neonatal hypotonia 101 / 7739
60
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
61
 (HPO:0001518) Small for gestational age 107 / 7739
62
 (HPO:0001601) Laryngomalacia 61 / 7739
63
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
64
 (HPO:0001763) Pes planus 176 / 7739
65
 (HPO:0001882) Leukopenia 51 / 7739
66
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
67
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
68
 (HPO:0002943) Thoracic scoliosis 12 / 7739
69
 (HPO:0004283) Narrow palm 8 / 7739
70
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
71
 (HPO:0007074) Thick corpus callosum 5 / 7739
72
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
73
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
74
 (HPO:0008915) Childhood-onset truncal obesity 3 / 7739
75
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
76
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Occasional [Orphanet] 41 / 7739
77
 (HPO:0010049) Short metacarpal 99 / 7739
78
 (HPO:0010743) Short metatarsal 56 / 7739
79
 (OMIM) Truncal obesity developing in mid-childhood 1 / 7739
80
 (OMIM) Micrognathia, mild 8 / 7739
81
 (OMIM) Almond-shaped eyes 12 / 7739
82
 (OMIM) Prominent upper central incisors 2 / 7739
83
 (OMIM) Lumbar lordosis, mild 2 / 7739
84
 (OMIM) Mild thoracic scoliosis 1 / 7739
85
 (OMIM) Mild shortening of metacarpals 1 / 7739
86
 (HPO:0001786) Narrow foot 11 / 7739
87
 (OMIM) Mild shortening of metatarsals 1 / 7739
88
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
89
 (HPO:0010547) Muscle flaccidity 466 / 7739
90
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
91
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
92
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
93
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
94
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
95
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
96
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
97
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
98
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
99
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
100
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
101
 (HPO:0000347) Micrognathia 426 / 7739
102
 (HPO:0007663) Reduced visual acuity 100 / 7739