|
1
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
frequent [HPO]
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0001857)
|
Short distal phalanx of toe |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0011305)
|
Partial absence of toe |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
5
|
(HPO:0009700)
|
Finger symphalangism |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
7
|
(HPO:0005048)
|
Synostosis of carpal bones |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
8
|
(HPO:0009702)
|
Carpal synostosis |
10/10 [HPO]
|
|
|
|
26 / 7739
|
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
occasional [HPO]
|
|
|
|
524 / 7739
|
|
10
|
(HPO:0000540)
|
Hypermetropia |
occasional [HPO]
|
|
|
|
99 / 7739
|
|
11
|
(HPO:0001204)
|
Distal symphalangism of hands |
5/5 [HPO]
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
13
|
(HPO:0006109)
|
Absent phalangeal crease |
common [HPO]
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0006152)
|
Proximal symphalangism of hands |
16/16 [HPO]
|
|
|
|
9 / 7739
|
|
15
|
(HPO:0008368)
|
Tarsal synostosis |
typical [HPO]
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0008386)
|
Aplasia/Hypoplasia of the nails |
common [HPO]
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0009623)
|
Proximal placement of thumb |
common [HPO]
|
|
|
|
50 / 7739
|
|
18
|
(HPO:0009835)
|
Aplasia/Hypoplasia of the distal phalanges of the hand |
common [HPO]
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0009843)
|
Aplasia/Hypoplasia of the middle phalanges of the hand |
typical [HPO]
|
|
|
|
13 / 7739
|
|
20
|
(HPO:0010034)
|
Short 1st metacarpal |
7/10 [HPO]
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0010194)
|
Aplasia/Hypoplasia of the middle phalanges of the toes |
frequent [HPO]
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
frequent [HPO]
|
|
|
|
36 / 7739
|
|
23
|
(OMIM)
|
Variable terminal deficiency of fingers |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Absent distal and absent/hypoplastic middle phalanges |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
(Type 1) |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Absent distal and middle phalanges |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Proximal interphalangeal joint fusion (symphalangism) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Variable terminal deficiency of toes |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
30
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
32
|
(HPO:0010185)
|
Aplasia/Hypoplasia of the distal phalanges of the toes |
frequent [HPO]
|
|
|
|
4 / 7739
|