Osteoporosis-pseudoglioma syndrome

Disease Export to PDF
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
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14