|
1
|
(HPO:0000187)
|
Broad alveolar ridges |
|
|
|
|
14 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
8
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
9
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
10
|
(HPO:0000696)
|
Delayed eruption of permanent teeth |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
12
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0001742)
|
Nasal obstruction |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
15
|
(HPO:0004407)
|
Bony paranasal bossing |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0005465)
|
Facial hyperostosis |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0006384)
|
Club-shaped distal femur |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0009772)
|
Patchy sclerosis of finger phalanx |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
20
|
(OMIM)
|
Nasal obstruction leading to mouth breathing |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Mild anterior rib widening |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0004437)
|
Cranial hyperostosis |
|
|
|
|
55 / 7739
|
|
23
|
(OMIM)
|
Obliteration of paranasal sinuses and mastoid |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Gene valgum |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Dense diaphyses |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Humeri, radii, ulnae bowing |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Metacarpal sclerosis |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|