renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies
MONDO:0012692Mondo
Findings
No curated finding names renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Abnormal CNS myelinationHPOHP:0011400
- 4 of 4 reported patients
- Beta 2-microglobulinuriaHPOHP:0025466
- 3 of 3 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Medullary nephrocalcinosisHPOHP:0012408
- 4 of 4 reported patients
- Metabolic acidosisHPOHP:0001942
- 4 of 4 reported patients
- OsteopeniaHPOHP:0000938
- 3 of 3 reported patients
- ProteinuriaHPOHP:0000093
- 4 of 4 reported patients
- Reduced renal corticomedullary differentiationHPOHP:0005565
- 4 of 4 reported patients
- Renal cortical hyperechogenicityHPOHP:0033132
- 4 of 4 reported patients
- Renal hypoplasiaHPOHP:0000089
- 4 of 4 reported patients
- ScoliosisHPOHP:0002650
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
Show the remaining 2
- VentriculomegalyHPOHP:0002119
- 4 of 4 reported patients
- Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- 2 of 4 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies
- Also called
- renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies