CP

PanelMode of inheritanceDetails
6 panels
R-numbers: R56
Signed-off version 1.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia 604290, Aceruloplasminemia, Hypoceruloplasminemia, hereditary 604290, Dystonia, Hemosiderosis, systemic, due to aceruloplasminemia 604290
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemosiderosis, systemic, due to aceruloplasminemia, 604290, Cerebellar ataxia, 604290, Aceruloplasminemia, 604290
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290
R-numbers: R96
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 ACERULOPLASMINEMIA
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290