Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
3
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
4
 (HPO:0000369) Low-set ears 372 / 7739
5
 (HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
8
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
9
 (HPO:0000023) Inguinal hernia 181 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
12
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
13
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
14
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
15
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
16
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
17
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
18
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
19
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
20
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
21
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
22
 (HPO:0001371) Flexion contracture 220 / 7739
23
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
24
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
25
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
26
 (HPO:0009756) Popliteal pterygium Frequent [Orphanet] 9 / 7739
27
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
28
 (HPO:0001724) Aortic dilatation Occasional [Orphanet] 24 / 7739
29
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
30
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
31
 (HPO:0000046) Scrotal hypoplasia Occasional [Orphanet] 54 / 7739
32
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
33
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
34
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Frequent [Orphanet] 55 / 7739
35
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
36
 (HPO:0000347) Micrognathia 426 / 7739
37
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 81 / 7739
38
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
39
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
40
 (HPO:0000218) High palate 356 / 7739
41
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
42
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
43
 (HPO:0000028) Cryptorchidism 347 / 7739
44
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
45
 (HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
46
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
47
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
48
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
49
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
50
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
51
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
52
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
53
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
54
 (HPO:0002162) Low posterior hairline Occasional [Orphanet] 88 / 7739
55
 (HPO:0000766) Abnormality of the sternum Very frequent [Orphanet] 31 / 7739
56
 (HPO:0000047) Hypospadias 250 / 7739
57
 (HPO:0000160) Narrow mouth 188 / 7739
58
 (HPO:0000464) Abnormality of the neck 31 / 7739
59
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
60
 (HPO:0000890) Long clavicles 13 / 7739
61
 (HPO:0000902) Rib fusion 19 / 7739
62
 (HPO:0001060) Axillary pterygia 4 / 7739
63
 (HPO:0001159) Syndactyly 140 / 7739
64
 (HPO:0001166) Arachnodactyly 62 / 7739
65
 (HPO:0001558) Decreased fetal movement 74 / 7739
66
 (HPO:0001762) Talipes equinovarus 309 / 7739
67
 (HPO:0001836) Camptodactyly of toe 27 / 7739
68
 (HPO:0001838) Rocker bottom foot 85 / 7739
69
 (HPO:0001884) Talipes calcaneovalgus 14 / 7739
70
 (HPO:0002557) Hypoplastic nipples 33 / 7739
71
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
72
 (HPO:0002714) Downturned corners of mouth 98 / 7739
73
 (HPO:0002808) Kyphosis 289 / 7739
74
 (HPO:0002827) Hip dislocation 94 / 7739
75
 (HPO:0002949) Fused cervical vertebrae 13 / 7739
76
 (HPO:0003083) Dislocated radial head 35 / 7739
77
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
78
 (HPO:0004459) Exostosis of the external auditory canal 2 / 7739
79
 (HPO:0005617) Bilateral camptodactyly 4 / 7739
80
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
81
 (HPO:0006443) Patellar aplasia 14 / 7739
82
 (HPO:0006446) Dysplastic patella 1 / 7739
83
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
84
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
85
 (HPO:0008729) Absence of labia majora 1 / 7739
86
 (HPO:0009110) Diaphragmatic eventration 8 / 7739
87
 (HPO:0009757) Intercrural pterygium 2 / 7739
88
 (HPO:0009759) Neck pterygia 1 / 7739
89
 (HPO:0009760) Antecubital pterygium 5 / 7739
90
 (HPO:0009761) Anterior clefting of vertebral bodies 1 / 7739
91
 (OMIM) Flat, expressionless face 1 / 7739
92
 (OMIM) Difficulty in opening mouth 1 / 7739
93
 (OMIM) Eventration of diaphragm 4 / 7739
94
 (HPO:0012385) Camptodactyly 113 / 7739
95
 (OMIM) Pterygia of digits, neck, axillae, antecubital, popliteal, intercrural areas 1 / 7739
96
 (OMIM) Reduced muscle mass 4 / 7739
97
 (OMIM) Normal intelligence 81 / 7739
98
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
99
 (HPO:0002803) Congenital contracture Frequent [Orphanet] 45 / 7739
100
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
101
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
102
 (HPO:0000163) Abnormality of the oral cavity Occasional [Orphanet] 37 / 7739
103
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
104
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
105
 (HPO:0012815) Hypoplastic female external genitalia Occasional [Orphanet] 36 / 7739
106
 (HPO:0012718) Morphological abnormality of the gastrointestinal tract Occasional [Orphanet] 5 / 7739
107
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
108
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
109
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
110
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
111
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739