Autosomal recessive form of progressive external ophthalmoplegia.
Comprehensive, easy-to-understand information about this condition
Checking for content...
progressive external ophthalmoplegia with mitochondrial DNA deletions
MONDO:0000090
immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133
hypercalcemia, infantile
MONDO:0000212
Ochoa syndrome
MONDO:0000463
autosomal recessive Ehlers-Danlos syndrome, vascular type
MONDO:0002014
hydrolethalus syndrome
MONDO:0006037