Zellweger-like syndrome without peroxisomal anomalies
Synonyms: Ahn-Lerman-Sagie syndrome
Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term) 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Zellweger-like syndrome without peroxisomal anomalies?
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