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Leukodystrophy - paediatric v0.25 | MPLKIP |
Bryony Thompson gene: MPLKIP was added gene: MPLKIP was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive 234050 Review for gene: MPLKIP was set to RED Added comment: White matter changes have been reported in association with trichothiodystrophy, but has not been reported in this subtype of the disease. Sources: Expert list |