LIG3

PanelMode of inheritanceDetails
1 panel
R-numbers: R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion