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

More general terms

• genetic disease
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/225790