Human genes for proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome [DOID:0111666]
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 FLVCR2 on chromosome 14q24.3.
Synonyms: proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, DOID:0111666, proliferative vasculopathy and hydranencephalyhydrocephaly syndrome, proliferative vasculopathy and hydranencephaly-hydrocephaly disease, proliferative vasculopathy and hydranencephaly-hydrocephaly disorder ...