Zellweger-like syndrome without peroxisomal anomalies
An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
AHN-Lerman-Sagie syndrome
exact