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Human Disease

congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

Term ID
DOID:0112359
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. (2)
References
Ontology
Human Disease   ( DOID:0112359 )
Relationships
is a type of
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Genes Involved
Zebrafish Models