|
1
|
(HPO:0000289)
|
Broad philtrum |
|
|
|
|
11 / 7739
|
|
2
|
(HPO:0010800)
|
Absent cupid's bow |
|
|
|
|
2 / 7739
|
|
3
|
(HPO:0002263)
|
Exaggerated cupid's bow |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0002002)
|
Deep philtrum |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
7
|
(HPO:0001805)
|
Thick nail |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
9
|
(HPO:0000679)
|
Taurodontia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
11
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
13
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
14
|
(OMIM)
|
Full upper lip |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Philtrum thick and wide |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
|
17
|
(OMIM)
|
Molar roots pyramidal |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
19
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|