Term Name: | ventriculomegaly - cystic kidney disease |
---|---|
Synonyms: | congenital nephrosis-cerebral ventriculomegaly syndrome, cystic kidney disease with ventriculomegaly, ventriculomegaly with cystic kidney disease, VMCKD |
Definition: | A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. |
Ontology: | Human Disease [DOID:0111625] ( DOID:0111625 ) |