AAAS

aladin WD repeat nucleoporin
OMIM: 605378
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
R-numbers: R150
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, OMIM:231550, Triple-A syndrome, MONDO:0009279