Alacrimia-choreoathetosis-liver dysfunction syndrome
Name: |
Alacrimia-choreoathetosis-liver dysfunction syndrome
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Description: |
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.
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ORPHAcode: |
404454
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Synonyms: |
NGLY1 deficiency
NGLY1-CDDG
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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