|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
7
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
8
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
9
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
15
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
16
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
17
|
(OMIM)
|
High, prominent forehead |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Facial asymmetry, mild |
|
|
|
|
5 / 7739
|
|
19
|
(OMIM)
|
Normal hearing |
|
|
|
|
9 / 7739
|
|
20
|
(OMIM)
|
Normal sclerae |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
No dentinogenesis imperfecta |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
Repeated bone fractures |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Mild bone deformities |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Mild scoliosis |
|
|
|
|
7 / 7739
|
|
25
|
(OMIM)
|
Bowing of upper limbs |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Bowing of lower limbs |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Hyperextensibility of the interphalangeal joints |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
rare [HPO:skoehler]
|
|
|
|
355 / 7739
|
|
30
|
(HPO:0040160)
|
Generalized osteoporosis |
|
|
|
|
7 / 7739
|