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Leukodystrophy - paediatric v0.30 | PHGDH |
Bryony Thompson gene: PHGDH was added gene: PHGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 Review for gene: PHGDH was set to RED Added comment: No clear link to leukodystophy for this gene. Sources: Expert list |