renal hypodysplasia/aplasia 4
MONDO:0030822Mondo
Findings
No curated finding names renal hypodysplasia/aplasia 4 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 · Second trimester 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
- 1 of 1 reported patient
- Bilateral renal agenesisHPOHP:0010958
- 2 of 2 reported patients
- Potter faciesHPOHP:0002009
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 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.
- GFRA1HGNC:4243
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: renal hypodysplasia/aplasia 4
- Also called
- RHDA4