GTR Home > Conditions/Phenotypes > Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

Summary

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare autosomal recessive prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). [from OMIM]

Available tests

10 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, FLVCR2
    Summary: feline leukemia virus subgroup C cellular receptor family member 2

Clinical features

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