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 )

Relationships
is a type of: autosomal recessive disease syndrome