CTSK

PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYCNODYSOSTOSIS 265800
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYCNODYSOSTOSIS
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis OMIM:265800, pycnodysostosis MONDO:0009940
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800, 265800
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis 265800