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Undiagnosed metabolic disorders v1.431 DDC Arina Puzriakova Publications for gene: DDC were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.430 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency 608643 to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Undiagnosed metabolic disorders v1.413 DDC Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders DDC Sarah Leigh marked DDC as ready
Undiagnosed metabolic disorders DDC Sarah Leigh classified DDC as green
Undiagnosed metabolic disorders DDC Sarah Leigh commented on DDC
Undiagnosed metabolic disorders DDC Sarah Leigh reviewed DDC