|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
10
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
11
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
13
|
(HPO:0000917)
|
Superior pectus carinatum |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0000891)
|
Cervical ribs |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
16
|
(HPO:0003310)
|
Abnormality of the odontoid process |
|
|
|
|
5 / 7739
|
|
17
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
19
|
(OMIM)
|
L5-S1 fusion |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Sagittal cleft of vertebral body of L5 |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|