| Metadata | |
|---|---|
| ID | DOID:0112359 |
| Name | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| 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. https://pubmed.ncbi.nlm.nih.gov/28566479/, https://pubmed.ncbi.nlm.nih.gov/29036646/ |
| Xrefs | |
| Synonyms |
CAKUTHED [EXACT] |
| Parent Relationships |
is_a syndrome |