| Metadata | |
|---|---|
| ID | DOID:0111666 |
| Name | proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/20206334 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
cerebral proliferative glomeruloid vasculopathy [EXACT] encephaloclastic proliferative vasculopathy [EXACT] EPV [EXACT] Fowler syndrome [EXACT] Fowler vasculopathy [EXACT] hydranencephaly, Fowler type [EXACT] hydrocephaly/hydranencephaly due to cerebral vasculopathy [EXACT] proliferative vasculopathy and hydranencephaly/hydrocephaly [EXACT] PVHH [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |