CLN7 disease

Type

Disease
External link(s)
- IEMbase
Gene
- MFSD8 / Major Facilitator Superfamily Domain Containing 8
  4q28.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Major facilitator superfamily domain-containing protein 8
Disease group(s)
- 20.4 Neuronal ceroid lipofuscinoses (NCL)
Child entries
- Macular dystrophy with central cone involvement