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.