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congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0112359
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
