|
1
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
6
|
(HPO:0000483)
|
Astigmatism |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0011305)
|
Partial absence of toe |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
10
|
(HPO:0000384)
|
Preauricular skin tag |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0009912)
|
Abnormality of the tragus |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
13
|
(HPO:0009795)
|
Branchial fistula |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0009796)
|
Branchial cyst |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
15
|
(HPO:0100272)
|
Branchial sinus |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
17
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
|
18
|
(HPO:0000211)
|
Trismus |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
21
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
23
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
24
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
25
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
26
|
(OMIM)
|
Internal auditory canal hypoplasia |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Pointed phalanx (5th finger) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Bony erosions (5th finger) |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
30
|
(HPO:0008544)
|
Abnormally folded helix |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
31
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|