Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 |
Green in Congenital adrenal hypoplasiaR-numbers: R150 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Triple A syndrome (Addisons, achalasia, alacrima), 231550 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550, Triple A syndrome, 231550 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Achalasia-addisonianism-alacrimia syndrome 231550 |