Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 |