Term Name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Synonyms: CAKUTHED
Definition: A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene.
Ontology: Human Disease [DOID:0112359]   ( DOID:0112359 )

Relationships
is a type of: autosomal dominant disease syndrome