|
1
|
(HPO:0000381)
|
Stapes ankylosis |
hallmark [HPO:probinson]
|
|
|
|
7 / 7739
|
|
2
|
(HPO:0000405)
|
Conductive hearing impairment |
hallmark [HPO]
|
|
|
|
164 / 7739
|
|
3
|
(HPO:0000430)
|
Underdeveloped nasal alae |
frequent [HPO]
|
|
10069712
|
IBIS
|
90 / 7739
|
|
4
|
(HPO:0000466)
|
Limited neck range of motion |
3/6 [HPO]
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0000540)
|
Hypermetropia |
hallmark [HPO]
|
|
|
|
99 / 7739
|
|
6
|
(HPO:0001770)
|
Toe syndactyly |
frequent [HPO]
|
|
|
|
149 / 7739
|
|
7
|
(HPO:0002949)
|
Fused cervical vertebrae |
2/5 [HPO]
|
|
2319886
|
IBIS
|
13 / 7739
|
|
8
|
(HPO:0003189)
|
Long nose |
frequent [HPO]
|
|
10069712
|
IBIS
|
20 / 7739
|
|
9
|
(HPO:0007943)
|
Congenital stapes ankylosis |
hallmark [HPO]
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0009177)
|
Proximal/middle symphalangism of 5th finger |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0009765)
|
Low hanging columella |
frequent [HPO]
|
|
2319886
|
IBIS
|
9 / 7739
|
|
12
|
(HPO:0009882)
|
Short distal phalanx of finger |
common [HPO]
|
|
2319886
|
IBIS
|
125 / 7739
|
|
13
|
(HPO:0010055)
|
Broad hallux |
hallmark [HPO]
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0011304)
|
Broad thumb |
hallmark [HPO]
|
|
|
|
39 / 7739
|
|
15
|
(OMIM)
|
Hemicylindrical nose |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Prominent columella |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
18
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|