Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0005990) Thyroid hypoplasia Occasional [Orphanet] 21 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 44 / 7739
6
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
7
 (HPO:0000377) Abnormality of the pinna 111 / 7739
8
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
9
 (HPO:0000046) Scrotal hypoplasia Occasional [Orphanet] 54 / 7739
10
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
11
 (HPO:0003045) Abnormality of the patella Occasional [Orphanet] 33 / 7739
12
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
13
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
14
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
15
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
16
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
17
 (HPO:0000431) Wide nasal bridge 290 / 7739
18
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
19
 (HPO:0000695) Natal tooth Occasional [Orphanet] 42 / 7739
20
 (HPO:0000347) Micrognathia 426 / 7739
21
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
22
 (HPO:0010804) Tented upper lip vermilion Frequent [Orphanet] 47 / 7739
23
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
24
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
25
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
26
 (HPO:0000028) Cryptorchidism 347 / 7739
27
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
28
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
29
 (HPO:0001833) Long foot Frequent [Orphanet] 33 / 7739
30
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
31
 (HPO:0000821) Hypothyroidism Frequent [Orphanet] 141 / 7739
32
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
33
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
34
 (HPO:0008551) Microtia 98 / 7739
35
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
36
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
37
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
38
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
39
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
40
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
41
 (HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
42
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
43
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
44
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
45
 (HPO:0001388) Joint laxity 117 / 7739
46
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
47
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
48
 (HPO:0001249) Intellectual disability 1089 / 7739
49
 (HPO:0000093) Proteinuria 169 / 7739
50
 (HPO:0000233) Thin vermilion border 124 / 7739
51
 (HPO:0000319) Smooth philtrum 72 / 7739
52
 (HPO:0000343) Long philtrum 262 / 7739
53
 (HPO:0000365) Hearing impairment 539 / 7739
54
 (HPO:0000463) Anteverted nares 305 / 7739
55
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
56
 (HPO:0000687) Widely spaced teeth 40 / 7739
57
 (HPO:0001760) Abnormality of the foot 96 / 7739
58
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
59
 (HPO:0003196) Short nose 264 / 7739
60
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
61
 (HPO:0004322) Short stature 1232 / 7739
62
 (OMIM) Long, flat philtrum 5 / 7739
63
 (OMIM) Short upturned nose 6 / 7739
64
 (OMIM) Thin vermilion 3 / 7739
65
 (HPO:0011968) Feeding difficulties 240 / 7739
66
 (OMIM) Overriding 3rd toes 2 / 7739
67
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
68
 (HPO:0010547) Muscle flaccidity 466 / 7739
69
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
70
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
71
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
72
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
73
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
74
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
75
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
76
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
77
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
78
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739