DYM

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800, SMITH-MCCORT DYSPLASIA 607326
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SMITH-MCCORT DYSPLASIA, DYGGVE-MELCHIOR-CLAUSEN SYNDROME
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
Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388, Dyggve-Melchior-Clausen disease, 223800, Smith-McCort dysplasia, 607326
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
Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326, SMITH-MCCORT DYSPLASIA (SMC)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyggve-Melchior-Clausen disease 223800, Smith-McCort dysplasia 607326