|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
5
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
6
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
7
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
8
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
10
|
(OMIM)
|
Increased stature |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Facial asymmetry due to facial nerve palsy |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Wide and dense clavicles |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Wide and dense ribs |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Sclerotic calvarium |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Enlarged, sclerotic mandible |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Sclerotic vertebral end plates and pedicles |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Sclerotic pelvic bones |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Cortical hyperostosis of long bones |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Bony syndactyly of digits |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Radial deviation of distal phalanx |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Spastic-ataxic tetraparesis |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|