|
1
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
2
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
3
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
7
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0005033)
|
Distal ulnar hypoplasia |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
10
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
11
|
(OMIM)
|
Absent beard |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Small fingers and toes |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Thickened cheeks |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|