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.
Comprehensive, easy-to-understand information about this condition
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immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133
Neu-Laxova syndrome
MONDO:0000179
hypercalcemia, infantile
MONDO:0000212
Ochoa syndrome
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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syndromic intellectual disability
MONDO:0000508