|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
|
4
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
5
|
(HPO:0001776)
|
Bilateral talipes equinovarus |
|
|
|
|
8 / 7739
|
|
6
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0003027)
|
Mesomelia |
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0005716)
|
Lethal skeletal dysplasia |
|
|
|
|
6 / 7739
|
|
9
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
11
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
12
|
(HPO:0009826)
|
Limb undergrowth |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0011910)
|
Shortening of all phalanges of fingers |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Severe limb shortness |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Sclerotic bones |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Occipital synchondrosis |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Multiple wormian bones |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Shortening of all phalanges and metacarpals |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Large head Wide anterior fontanel |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|