1
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
2
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
5
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
6
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
7
|
(HPO:0002652)
|
Skeletal dysplasia |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
8
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
9
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
10
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
11
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
12
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
13
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
15
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
16
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
17
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
18
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
19
|
(HPO:0000925)
|
Abnormality of the vertebral column |
|
|
|
|
20 / 7739
|
20
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
21
|
(HPO:0001742)
|
Nasal obstruction |
|
|
|
|
5 / 7739
|
22
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
23
|
(HPO:0002694)
|
Sclerosis of skull base |
|
|
|
|
10 / 7739
|
24
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
25
|
(HPO:0004407)
|
Bony paranasal bossing |
|
|
|
|
3 / 7739
|
26
|
(HPO:0004975)
|
Erlenmeyer flask deformity of the femurs |
|
|
|
|
8 / 7739
|
27
|
(HPO:0005450)
|
Calvarial osteosclerosis |
|
|
|
|
2 / 7739
|
28
|
(HPO:0006384)
|
Club-shaped distal femur |
|
|
|
|
3 / 7739
|