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An extremely rare mitochondrial disorder with characteristics of facial dysmorphism similar to that seen in Zellweger syndrome. These features include frontal bossing, high forehead, up slanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds and in addition, pale skin, profound hypotonia, developmental delay and minor metabolic anomalies. No peroxisomal defects have been reported. Transmission is thought to be autosomal recessive.
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