1
|
(HPO:0001180)
|
Hand oligodactyly |
frequent [HPO]
|
|
9128926
|
IBIS
|
17 / 7739
|
2
|
(HPO:0009380)
|
Aplasia of the fingers |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
4
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
frequent [HPO]
|
|
9128926
|
IBIS
|
309 / 7739
|
6
|
(HPO:0003045)
|
Abnormality of the patella |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
7
|
(HPO:0006443)
|
Patellar aplasia |
common [HPO]
|
|
16826533
|
IBIS
|
14 / 7739
|
8
|
(HPO:0011301)
|
Absent foot |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
9
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
10
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
11
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
12
|
(HPO:0005613)
|
Aplasia/hypoplasia of the femur |
common [HPO]
|
|
9128926
|
IBIS
|
5 / 7739
|
13
|
(HPO:0009700)
|
Finger symphalangism |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
15
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
typical [HPO]
|
|
9128926
|
IBIS
|
119 / 7739
|
16
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
17
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
18
|
(HPO:0006492)
|
Aplasia/Hypoplasia of the fibula |
hallmark [HPO]
|
|
16826533
|
IBIS
|
3 / 7739
|
19
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
20
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
common [HPO]
|
|
9128926
|
IBIS
|
1232 / 7739
|
22
|
(HPO:0000141)
|
Amenorrhea |
|
|
|
|
16 / 7739
|
23
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
24
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
25
|
(HPO:0001374)
|
Congenital hip dislocation |
common [HPO]
|
|
9128926
|
IBIS
|
51 / 7739
|
26
|
(HPO:0001770)
|
Toe syndactyly |
frequent [HPO]
|
|
9128926
|
IBIS
|
149 / 7739
|
27
|
(HPO:0001800)
|
Hypoplastic toenails |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
28
|
(HPO:0001802)
|
Absent toenail |
|
|
|
|
6 / 7739
|
29
|
(HPO:0001849)
|
Foot oligodactyly |
common [HPO]
|
|
16826533
|
IBIS
|
9 / 7739
|
30
|
(HPO:0001964)
|
Aplasia/Hypoplasia of metatarsal bones |
frequent [HPO]
|
|
9128926
|
IBIS
|
5 / 7739
|
31
|
(HPO:0002866)
|
Hypoplastic iliac wing |
common [HPO]
|
|
9128926
|
IBIS
|
34 / 7739
|
32
|
(HPO:0002980)
|
Femoral bowing |
hallmark [HPO]
|
|
16826533
|
IBIS
|
36 / 7739
|
33
|
(HPO:0002984)
|
Hypoplasia of the radius |
hallmark [HPO]
|
|
16826533
|
IBIS
|
44 / 7739
|
34
|
(HPO:0002986)
|
Radial bowing |
hallmark [HPO]
|
|
16826533
|
IBIS
|
27 / 7739
|
35
|
(HPO:0005914)
|
Aplasia/Hypoplasia involving the metacarpal bones |
frequent [HPO]
|
|
9128926
|
IBIS
|
8 / 7739
|
36
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
occasional [HPO]
|
|
9128926
|
IBIS
|
198 / 7739
|
37
|
(HPO:0006143)
|
Abnormal finger flexion creases |
typical [HPO]
|
|
9128926
|
IBIS
|
4 / 7739
|
38
|
(HPO:0006262)
|
Aplasia/Hypoplasia of the 5th finger |
common [HPO]
|
|
16826533
|
IBIS
|
1 / 7739
|
39
|
(HPO:0006495)
|
Aplasia/Hypoplasia of the ulna |
hallmark [HPO]
|
|
16826533
|
IBIS
|
7 / 7739
|
40
|
(HPO:0008839)
|
Hypoplastic pelvis |
common [HPO]
|
|
9128926
|
IBIS
|
18 / 7739
|
41
|
(HPO:0009465)
|
Ulnar deviation of finger |
typical [HPO]
|
|
16826533
|
IBIS
|
48 / 7739
|
42
|
(HPO:0009767)
|
Aplasia/Hypoplasia of the phalanges of the hand |
|
|
|
|
5 / 7739
|
43
|
(OMIM)
|
Bowed forearms |
|
|
|
|
2 / 7739
|
44
|
(OMIM)
|
Hypoplastic/aplastic ulnae |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Short bowed radii |
|
|
|
|
5 / 7739
|
46
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
47
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
48
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
49
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
50
|
(OMIM)
|
Hypoplastic flexion creases dorsum of hand |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Absent/hypoplastic finger nails (thumb most severely affected) |
|
|
|
|
1 / 7739
|
52
|
(HPO:0200040)
|
Epidermoid cyst |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
53
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
54
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
55
|
(HPO:0400004)
|
Long ear |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
56
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
57
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|