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| Leukodystrophy - paediatric v0.22 | GTF2H5 |
Bryony Thompson gene: GTF2H5 was added gene: GTF2H5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive 616395 Review for gene: GTF2H5 was set to RED Added comment: White matter changes have been reported in association with trichothiodystrophy, but not in association with this subtype condition. Sources: Expert list |
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