|
1
|
(HPO:0004378)
|
Abnormality of the anus |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000625)
|
Cleft eyelid |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0001545)
|
Anteriorly placed anus |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0000632)
|
Lacrimation abnormality |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
8
|
(HPO:0009553)
|
Abnormality of the hairline |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0000579)
|
Nasolacrimal duct obstruction |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
11
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
12
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
|
13
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
14
|
(OMIM)
|
Oculopalpebral synechia |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Microphthalmia, extreme |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Grooved nasal tip |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Aberrant anterolateral scalp hairline |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000315)
|
Abnormality of the orbital region |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
19
|
(HPO:0000366)
|
Abnormality of the nose |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|