Condition: Dyggve-Melchior-Clausen syndrome
rs120074163 in
DYM gene and
Dyggve-Melchior-Clausen syndrome
PMID 12554689 2003 Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
PMID 12491225 2003 Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
PMID 18996921 2009 The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.