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proliferative vasculopathy & hydranencephaly-hydrocephaly syndrome

Epidemiology: - rare Genetics: - associated with defects in FLVCR2 Clinical manifestations: - prenatal lethal disorder - hydranencephaly - vasculopathy of the CNS & retina - diffuse ischemic lesions of the brain stem, basal ganglia, & spinal cord with calcifications

General

genetic disease syndrome

Database Correlations

OMIM 225790

References

  1. UniProt :accession Q9UPI
  2. OMIM :accession 225790