Any retinopathy caused by autosomal recessive variants in the IMPG1 gene.
Comprehensive, easy-to-understand information about this condition
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immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133
hypercalcemia, infantile
MONDO:0000212
Ochoa syndrome
MONDO:0000463
retinal dystrophies primarily involving Bruch's membrane
MONDO:0001666
vitreoretinal dystrophy
MONDO:0001923
dystrophies primarily involving the retinal pigment epithelium
MONDO:0001924