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| Leukodystrophy - paediatric v0.37 | PSAT1 |
Bryony Thompson gene: PSAT1 was added gene: PSAT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038; ?Phosphoserine aminotransferase deficiency 610992 Review for gene: PSAT1 was set to RED Added comment: Neu-Laxova syndrome is a congenital lethal condition. Poor white matter development reported in one family with possible PSAT1 deficiency. Sources: Expert list |
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