1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
3
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
8
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
9
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
10
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
11
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
12
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
13
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
14
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
15
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
16
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
18
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
19
|
(OMIM)
|
Delayed closure of the anterior fontanel |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Mild prognathism |
|
|
|
|
3 / 7739
|
21
|
(OMIM)
|
Chest deformity secondary to scoliosis |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Wide clavicles |
|
|
|
|
3 / 7739
|
23
|
(MedDRA:10017322)
|
Fractures |
|
|
|
|
18 / 7739
|
24
|
(MedDRA:10017076)
|
Fracture |
|
|
|
|
18 / 7739
|
25
|
(OMIM)
|
Poor diaphyseal constriction long tubular bones Poor metaphyseal flaring long tubular bones Wide short tubular bones Thin cortex osteopenia |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Delayed ossification of cranial vault in infancy |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Multiple wormian bones Sclerosis of skull base, minor |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Occipital bony protuberance |
|
|
|
|
1 / 7739
|
29
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
30
|
(OMIM)
|
Distorted pelvis |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Wide pubis |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Wide ischia |
|
|
|
|
1 / 7739
|
33
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
35
|
(HPO:0002689)
|
Absent paranasal sinuses |
|
|
|
|
4 / 7739
|
36
|
(HPO:0012761)
|
Absent mastoid |
|
|
|
|
1 / 7739
|