histidinuria due to a renal tubular defect
MONDO:0009346Mondo
Findings
No curated finding names histidinuria due to a renal tubular defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- HistidinuriaHPOHP:0002927
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
- Hypoplastic toenailsHPOHP:0001800
- Very frequent (80% to 99% of cases)
- Impaired histidine renal tubular absorptionHPOHP:0008666
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- Rounded middle phalanx of fingerHPOHP:0005844
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Very frequent (80% to 99% of cases)
Show the remaining 2
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: histidinuria due to a renal tubular defect
- Also called
- histidinuria-renal tubular defect syndrome