|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
5
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
7
|
(HPO:0005622)
|
Broad long bones |
|
|
|
|
8 / 7739
|
|
8
|
(OMIM)
|
Widened long bones with translucent metaphyseal flaring |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
12
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
14
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
15
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
16
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
17
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
18
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
19
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
20
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
|
21
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
22
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
|
23
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
24
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
25
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
26
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
27
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|