|
1
|
(HPO:0004378)
|
Abnormality of the anus |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
|
4
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
5
|
(HPO:0009932)
|
Single naris |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
7
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
8
|
(HPO:0000600)
|
Abnormality of the pharynx |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
9
|
(HPO:0000601)
|
Hypotelorism |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
10
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0001180)
|
Hand oligodactyly |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0002323)
|
Anencephaly |
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0007268)
|
Aprosencephaly |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
15
|
(OMIM)
|
Humerus and radius fused |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
|
17
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
18
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|