Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
3
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0100555) Asymmetric growth Occasional [Orphanet] 25 / 7739
6
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
7
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
8
 (HPO:0000293) Full cheeks Occasional [Orphanet] 85 / 7739
9
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
10
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
11
 (HPO:0001557) Prenatal movement abnormality Occasional [Orphanet] 16 / 7739
12
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
13
 (HPO:0011800) Midface retrusion Occasional [Orphanet] 221 / 7739
14
 (HPO:0000187) Broad alveolar ridges Occasional [Orphanet] 14 / 7739
15
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
16
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
17
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
18
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
19
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
20
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
21
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
22
 (HPO:0005487) Prominent metopic ridge Very frequent [Orphanet] 28 / 7739
23
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
24
 (HPO:0002263) Exaggerated cupid's bow Occasional [Orphanet] 15 / 7739
25
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
26
 (HPO:0000046) Scrotal hypoplasia Frequent [Orphanet] 54 / 7739
27
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
28
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
29
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
30
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
31
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 81 / 7739
32
 (HPO:0000695) Natal tooth Occasional [Orphanet] 42 / 7739
33
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
34
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
35
 (HPO:0009775) Amniotic constriction ring Frequent [Orphanet] 21 / 7739
36
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
37
 (HPO:0000340) Sloping forehead Occasional [Orphanet] 86 / 7739
38
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
39
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
40
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
41
 (HPO:0005988) Congenital muscular torticollis Very frequent [Orphanet] 11 / 7739
42
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
43
 (HPO:0010620) Malar prominence Frequent [Orphanet] 7 / 7739
44
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
45
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
46
 (HPO:0002047) Malignant hyperthermia Frequent [Orphanet] 20 / 7739
47
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
48
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
49
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
50
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
51
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
52
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
53
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
54
 (OMIM) Restricted motion 1 / 7739
55
 (OMIM) Axillary webbing 2 / 7739
56
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
57
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
58
 (HPO:0030089) Abnormal muscle fiber protein expression Frequent [Orphanet] 64 / 7739
59
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
60
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
61
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739