congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
MONDO:0060549Mondo
Findings
No curated finding names congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Renal hypoplasiaHPOHP:0000089
- 3 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 5 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 5 reported patients
- Absence of renal corticomedullary differentiationHPOHP:0005564
- 1 of 5 reported patients
- Horseshoe kidneyHPOHP:0000085
- 1 of 5 reported patients · Congenital onset
- Unilateral renal agenesisHPOHP:0000122
- 1 of 5 reported patients · Congenital onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PBX1HGNC:8632
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of