Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 5.4 | 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 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | 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 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 |