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Zellweger-like syndrome without peroxisomal anomalies

Disease Summary
Associated Targets ()

Mondo Description Zellweger-like syndrome without peroxisomal anomalies is 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 Term and Equivalent IDs
MONDO:0018861:  Zellweger-like syndrome without peroxisomal anomalies
Orphanet:50812: 
SCTID:718880003: 
UMLS:C4305104: 
UMLS:CN205183: