Gephyrin deficiency

Synonym(s)
- Molybdenum cofactor deficiency type C
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GPHN / Gephyrin
  14q23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Gephyrin
Disease group(s)
- 21.10 Disorders of molybdenum cofactor metabolism