COMP

cartilage oligomeric matrix protein
OMIM: 600310
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 1, OMIM:132400, Pseudoachondroplasia, OMIM:177170
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 1, OMIM:132400, Pseudoachondroplasia, OMIM:177170