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Article

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Clinical genetics - 1 Jan 2016

Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid B M, Nordgren A, Syk Lundberg E

Abstract excerpt

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. Hallmarks of the syndrome are glomerular vasculopathy in the central nervous system, severe hydrocephaly, hypokinesia and arthrogryphosis. The disorder is considered prenatally lethal. We report the first patients, a brother...

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Source

Identifiers

PMID: 25677735
DOI: 10.1111/cge.12565

Genes

FLVCR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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