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| Hyperammonaemia v0.0 | ALDH18A1 |
Zornitza Stark gene: ALDH18A1 was added gene: ALDH18A1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 24767728; 11092761 Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 |
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