1 |
short stature
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0004322
|
2 |
strabismus
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000486
|
3 |
overfolded helix
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000396
|
4 |
preauricular skin tag
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000384
|
5 |
short distal phalanx of finger
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0009882
|
6 |
atresia of the external auditory canal
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000413
|
7 |
abnormality of the middle ear ossicles
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0004452
|
8 |
branchial cyst
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0009796
|
9 |
preauricular pit
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0004467
|
10 |
branchial fistula
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0009795
|
11 |
astigmatism
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000483
|
12 |
mixed hearing impairment
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0000410
|
13 |
underdeveloped tragus
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0011272
|
14 |
aplasia/hypoplasia of the inner ear
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0008774
|
15 |
osteolytic defects of the distal phalanges of the hand
58
31
|
hallmark (90%) |
Very frequent (99-80%) |
HP:0009839
|
16 |
cleft palate
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0000175
|
17 |
specific learning disability
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0001328
|
18 |
reticulated skin pigmentation
58
31
|
frequent (33%) |
Frequent (79-30%) |
HP:0007427
|
19 |
sensorineural hearing impairment
58
31
|
|
Very frequent (99-80%) |
HP:0000407
|
20 |
conductive hearing impairment
58
|
|
Very frequent (99-80%) |
|
21 |
trismus
31
|
|
|
HP:0000211
|
22 |
submucous cleft hard palate
31
|
|
|
HP:0000176
|
23 |
abnormality of the pinna
58
|
|
Very frequent (99-80%) |
|
24 |
abnormal foot morphology
31
|
|
|
HP:0001760
|