tall stature-intellectual disability-renal anomalies syndrome
MONDO:0014918Mondo
Findings
No curated finding names tall stature-intellectual disability-renal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
48 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.
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Long palpebral fissureHPOHP:0000637
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Pedal edemaHPOHP:0010741
- 1 of 1 reported patient
- Protruding earHPOHP:0000411
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Retinal colobomaHPOHP:0000480
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Transiently decreased total neutrophil countHPOHP:0410255
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Bifid ureterHPOHP:0030037
- Frequent (30% to 79% of cases)
- CamptodactylyHPOHP:0012385
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Show the remaining 36
- Large for gestational ageHPOHP:0001520
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Mitral valve prolapseHPOHP:0001634
- Frequent (30% to 79% of cases)
- Persistently decreased total neutrophil countHPOHP:0410252
- Frequent (30% to 79% of cases)
- Proportionate tall statureHPOHP:0011407
- Frequent (30% to 79% of cases)
- Renal malrotationHPOHP:0004712
- Frequent (30% to 79% of cases)
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.
- FIBPHGNC:3705
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: tall stature-intellectual disability-renal anomalies syndrome
- Also called
- Thauvin-robinet-Faivre syndromeTROFAS