|
1
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
4
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
7
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
9
|
(OMIM)
|
? mosaicism for trisomy 18 in the liver |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Deficient alae nasi |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Complex congenital heart defect |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|