Term Name: | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
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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 ) |