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ENAlacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Alias:
Ngly1 Deficiency
Ngly1-Cddg
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Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome, also known as ngly1 deficiency, is related to ngly1-congenital disorder of deglycosylation and ngly1-deficiency. An important gene associated with Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome is NGLY1 (N-Glycanase 1). The drug Ophthalmic Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are cerebral atrophy and sensorimotor neuropathy
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MALACARDS
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