Syndetin deficiency

Synonym(s)
- Neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis
Type

Disease
Gene
- VPS50 / VPS50
  7q21.2-q21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Vacuolar protein sorting-associated protein 50
Disease group(s)
- 19.6.4 Other disorders of vesicular trafficking