Conditions / Syndrome
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
info · Syndrome
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 chromoso
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.
Signs and symptoms
- Renal hypoplasia
- Epicanthus
- Strabismus
- Anteverted nares
- Bifid ureter
- Deep philtrum
- Ambiguous genitalia
- Ectopic kidney
- Generalized hypotonia
- Motor delay
Also known as: CAKUTHED