|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0005617)
|
Bilateral camptodactyly |
|
|
|
|
4 / 7739
|
|
6
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
8
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
9
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
10
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
11
|
(HPO:0000066)
|
Labial hypoplasia |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
14
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
15
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
16
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
17
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
18
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
19
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
20
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
21
|
(HPO:0001885)
|
Short 2nd toe |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0003065)
|
Patellar hypoplasia |
|
|
|
|
8 / 7739
|
|
23
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
24
|
(HPO:0004634)
|
Cuboid-shaped vertebral bodies |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0005643)
|
Short 3rd toe |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
27
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
28
|
(HPO:0008093)
|
Short 4th toe |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0011917)
|
Short 5th toe |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Pelvis hypoplasia |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Second phalanx hypoplasia |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Brachydactyly, toes 2,4, and 5 |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Gluteal hypoplasia |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
35
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|