DO_rare_slim has material basis in autosomal recessive disease proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ORDO:221126 MIM:225790 disease_ontology MEDDRA:10071718 A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. MESH:C565593 UMLS_CUI:C1856972 DOID:0111666 EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly syndrome autosomal recessive inheritance