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| Leukodystrophy - paediatric v0.17 | ERCC3 |
Bryony Thompson gene: ERCC3 was added gene: ERCC3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive 616390 Review for gene: ERCC3 was set to RED Added comment: White matter changes have been reported in Trichothiodystrophy cases, but no neurological findings have been reported for the subtype of the condition caused by ERCC3. Sources: Expert list |
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