Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] 52 / 7739
3
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
4
 (HPO:0000104) Renal agenesis 68 / 7739
5
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
6
 (HPO:0009486) Radial deviation of the hand Occasional [Orphanet] 13 / 7739
7
 (HPO:0009741) Nephrosclerosis Occasional [Orphanet] 2 / 7739
8
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
9
 (HPO:0100583) Corneal perforation 4 / 7739
10
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
11
 (HPO:0001863) Toe clinodactyly Very frequent [Orphanet] 12 / 7739
12
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
13
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
14
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
15
 (HPO:0003974) Absent radius 26 / 7739
16
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
17
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
18
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
19
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
20
 (HPO:0000522) Alacrima Very frequent [Orphanet] 14 / 7739
21
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
22
 (HPO:0000217) Xerostomia Frequent [Orphanet] 35 / 7739
23
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
24
 (HPO:0010286) Abnormality of the salivary glands Frequent [Orphanet] 7 / 7739
25
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
26
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
27
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
28
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739
29
 (HPO:0005707) Bilateral triphalangeal thumbs 5 / 7739
30
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
31
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
32
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
33
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
34
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
35
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
36
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
37
 (HPO:0000668) Hypodontia 81 / 7739
38
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
39
 (HPO:0000337) Broad forehead Occasional [Orphanet] 116 / 7739
40
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
41
 (HPO:0000679) Taurodontia Occasional [Orphanet] 27 / 7739
42
 (HPO:0009796) Branchial cyst Occasional [Orphanet] 32 / 7739
43
 (HPO:0000632) Lacrimation abnormality Very frequent [Orphanet] 42 / 7739
44
 (HPO:0000198) Absence of Stensen duct 4 / 7739
45
 (HPO:0000316) Hypertelorism 644 / 7739
46
 (HPO:0000378) Cupped ear 34 / 7739
47
 (HPO:0000410) Mixed hearing impairment 22 / 7739
48
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
49
 (HPO:0000579) Nasolacrimal duct obstruction 9 / 7739
50
 (HPO:0000620) Dacryocystitis 4 / 7739
51
 (HPO:0000629) Periorbital fullness 13 / 7739
52
 (HPO:0000680) Delayed eruption of primary teeth 10 / 7739
53
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
54
 (HPO:0000974) Hyperextensible skin 59 / 7739
55
 (HPO:0001092) Absent lacrimal punctum 6 / 7739
56
 (HPO:0001233) 2-3 finger syndactyly 7 / 7739
57
 (HPO:0001245) Small thenar eminence 10 / 7739
58
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
59
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
60
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
61
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
62
 (HPO:0007656) Lacrimal gland aplasia 2 / 7739
63
 (HPO:0007732) Lacrimal gland hypoplasia 4 / 7739
64
 (HPO:0007892) Hypoplasia of the lacrimal puncta 1 / 7739
65
 (HPO:0007900) Hypoplastic lacrimal duct 2 / 7739
66
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
67
 (HPO:0008743) Coronal hypospadias 1 / 7739
68
 (HPO:0009462) Radial deviation of the 3rd finger 2 / 7739
69
 (HPO:0009637) Absent proximal phalanx of thumb 1 / 7739
70
 (HPO:0009740) Aplasia of the parotid gland 1 / 7739
71
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
72
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
73
 (HPO:0009944) Partial duplication of thumb phalanx 7 / 7739
74
 (HPO:0011065) Conical incisor 5 / 7739
75
 (HPO:0100258) Preaxial polydactyly 39 / 7739
76
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
77
 (OMIM) Hearing loss, mixed conductive-sensorineural 2 / 7739
78
 (OMIM) Aplastic/hypoplastic lacrimal puncta 1 / 7739
79
 (HPO:0008038) Aplastic/hypoplastic lacrimal glands 1 / 7739
80
 (MedDRA:10011844) Dacryocystitis 4 / 7739
81
 (OMIM) Partially reduced visually acuity 1 / 7739
82
 (MedDRA:10072138) Limbal stem cell deficiency 1 / 7739
83
 (OMIM) Corneal sensitivity impairment (hypesthesia) 1 / 7739
84
 (OMIM) Absent parotid gland 1 / 7739
85
 (MedDRA:10030963) Oral candidiasis 4 / 7739
86
 (OMIM) Dental caries, severe 5 / 7739
87
 (OMIM) Clinodactyly, 3,5 finger 1 / 7739
88
 (OMIM) Broad halluces 12 / 7739
89
 (OMIM) Syndactyly, 2-3, 3-4 toe 1 / 7739
90
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
91
 (HPO:0008544) Abnormally folded helix Very frequent [Orphanet] 24 / 7739
92
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
93
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
94
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
95
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
96
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
97
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739