CTSK

PanelMode of inheritanceDetails
7 panels
R-numbers: R100
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800, 265800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYCNODYSOSTOSIS 265800
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYCNODYSOSTOSIS
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
Pycnodysostosis
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800