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A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.




Peroxisome biogenesis disorder 4C


Peroxisome biogenesis disorder
Amelogenesis imperfecta


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