Osteoporosis-pseudoglioma syndrome
Name: |
Osteoporosis-pseudoglioma syndrome
|
Description: |
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
|
ORPHAcode: |
2788
|
Synonyms: |
OPPG
Ocular form of osteogenesis imperfecta
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|