ROGDI

PanelMode of inheritanceDetails
5 panels
R-numbers: R340
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome, 226750, Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KOHLSCHŸTTER-TšNZ SYNDROME 226750
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KOHLSCHAYTTER-TANZ SYNDROME
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome 226750
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome, 226750, KOHLSCH TTER-T _NZ SYNDROME