Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Intellectual disability v3.565 DDC Arina Puzriakova Publications for gene: DDC were set to 20505134
Intellectual disability v3.564 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Intellectual disability v3.3 DDC Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622, 30689738, 25597765, 24788355; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability DDC BRIDGE consortium edited their review of DDC
Intellectual disability DDC BRIDGE consortium edited their review of DDC
Intellectual disability DDC BRIDGE consortium reviewed DDC