|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
6
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
|
7
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
12
|
(HPO:0001841)
|
Preaxial foot polydactyly |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0002507)
|
Semilobar holoprosencephaly |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0007700)
|
Anterior segment dysgenesis |
|
|
|
|
9 / 7739
|
|
15
|
(OMIM)
|
Severe neurologic impairment |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Cerebral malformation |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Interventricular septal defect |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Large soft pinnae |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|