1
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
2
|
(HPO:0009700)
|
Finger symphalangism |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
3
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
5
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
6
|
(HPO:0010109)
|
Short hallux |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
7
|
(HPO:0011305)
|
Partial absence of toe |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
8
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
9
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
10
|
(HPO:0100777)
|
Exostoses |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
11
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
12
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
13
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
14
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
15
|
(HPO:0100266)
|
Synostosis of carpals/tarsals |
|
|
|
|
4 / 7739
|
16
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
17
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
18
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
19
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
20
|
(HPO:0005067)
|
Proximal fibular overgrowth |
|
|
|
|
3 / 7739
|
21
|
(HPO:0009565)
|
Aplasia of the distal phalanx of the 2nd finger |
|
|
|
|
1 / 7739
|
22
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
23
|
(HPO:0010105)
|
Short first metatarsal |
|
|
|
|
4 / 7739
|
24
|
(HPO:0010432)
|
Absent distal phalanx of the 2nd toe |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Short first metacarpals and first metatarsals |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Absent distal phalanges of index fingers and second toes |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Short abducted thumbs |
|
|
|
|
3 / 7739
|
28
|
(OMIM)
|
Short, abducted great toes |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Mild bowleg |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Variable mild short stature |
|
|
|
|
1 / 7739
|
31
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
32
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
33
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|