Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
3
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
4
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
5
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
6
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
7
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
8
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
9
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
10
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
11
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
12
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
13
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
14
 (HPO:0009721) Shagreen patch Very frequent [Orphanet] 11 / 7739
15
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
16
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
17
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
18
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
19
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
20
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
21
 (HPO:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
22
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
23
 (HPO:0001249) Intellectual disability 1089 / 7739
24
 (HPO:0000175) Cleft palate 349 / 7739
25
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
26
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
27
 (HPO:0000341) Narrow forehead 96 / 7739
28
 (HPO:0000365) Hearing impairment 539 / 7739
29
 (HPO:0000490) Deeply set eye 131 / 7739
30
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
31
 (HPO:0000565) Esotropia 58 / 7739
32
 (HPO:0000612) Iris coloboma 116 / 7739
33
 (HPO:0000625) Cleft eyelid 31 / 7739
34
 (HPO:0000639) Nystagmus 555 / 7739
35
 (HPO:0000717) Autism 108 / 7739
36
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
37
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
38
 (HPO:0002066) Gait ataxia 327 / 7739
39
 (HPO:0003298) Spina bifida occulta 67 / 7739
40
 (HPO:0007517) Palmoplantar cutis laxa 9 / 7739
41
 (HPO:0011297) Abnormality of digit 4 / 7739
42
 (OMIM) Asymmetric palpebral fissure 1 / 7739
43
 (OMIM) Coloboma of the retina 1 / 7739
44
 (OMIM) Prominent mandible 5 / 7739
45
 (OMIM) Lumbosacral anomalies 1 / 7739
46
 (OMIM) Pelvic anomalies 1 / 7739
47
 (OMIM) Wrinkling of skin on limbs 1 / 7739
48
 (HPO:0001252) Muscular hypotonia 990 / 7739
49
 (HPO:0001324) Muscle weakness 859 / 7739
50
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
51
 (HPO:0010547) Muscle flaccidity 466 / 7739
52
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
53
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739