|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
6
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
7
|
(HPO:0001132)
|
Lens subluxation |
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001810)
|
Dystrophic toenail |
|
|
|
|
9 / 7739
|
|
10
|
(OMIM)
|
Short midface |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Epidermolysis bullosa localized to anterior legs |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Enamel defect |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0003584)
|
Late onset |
|
|
|
|
10 / 7739
|