Alacrimia-choreoathetosis-liver dysfunction syndrome
Synonyms: NGLY1 deficiency | NGLY1-CDDG
A rare genetic inborn error of metabolism disorder characterized by global developmental delay hypotonia choreoathetosis hypo-/alacrimia and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly hypo-/areflexia seizures peripheral neuropathy intellectual and language/speech disability additional ocular anomalies and EEG and brain imaging abnomalities.
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 December 2023
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Alacrimia-choreoathetosis-liver dysfunction syndrome?
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