Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
Green in White matter disorders - adult onsetR-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 |