Condition: Nerve Degeneration


rs1554967681 in SCYL1 gene and Nerve Degeneration PMID 29419818 2018 SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

rs1555582065 in UBTF;LOC101926967 gene and Nerve Degeneration PMID 29300972 2018 A recurrent de novo missense mutation in UBTF causes developmental neuroregression.