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Likely inborn error of metabolism - targeted testing not possible v2.33 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.12 | DDC | Sarah Leigh Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency to Aromatic L-amino acid decarboxylase deficiency 608643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.11 | DDC | Sarah Leigh Publications for gene: DDC were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.4 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | DDC |
Ivone Leong Source NHS GMS was added to DDC. Source London North GLH was added to DDC. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DDC |
Ellen McDonagh gene: DDC was added gene: DDC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 27604308; 24816252 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency |