renal hypodysplasia/aplasia 2
Findings
No curated finding names renal hypodysplasia/aplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.
Definition from the Mondo Disease Ontology (MONDO:0014319), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
5 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.
- AnhydramniosHPOHP:0025700
- 4 of 4 reported patients
- Bilateral renal agenesisHPOHP:0010958
- 4 of 4 reported patients
- Potter faciesHPOHP:0002009
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
- Redundant skinHPOHP:0001582
- 1 of 1 reported patient
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.
- FGF20HGNC:3677
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: renal hypodysplasia/aplasia 2
- Also called
- FGF20 renal agenesis (disease)renal agenesis (disease) caused by mutation in FGF20renal hypodysplasia/aplasia type 2