Dymeclin deficiency

Synonym(s)
- Dyggve-Melchior-Clausen syndrome (severe),
- Smith-McCort dysplasia (milder)
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DYM / Dymatize Gene
  18q21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Dymatize protein
Disease group(s)
- 19.6.4 Other disorders of vesicular trafficking