- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: IEA. (OMIM:191830)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: IEA. (OMIM:191830)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:24439109)
- Bilateral renal agenesis (HP:0010958): A bilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 4/4. (PMID:24439109)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 2/3. (PMID:24439109)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 3/3. (PMID:24439109)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: IEA. (OMIM:191830)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:191830)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:191830)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24439109)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: IEA. (OMIM:191830)
- Potter facies (HP:0002009): A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. Evidence: PCS. Frequency: 3/3. (PMID:24439109)
- Anhydramnios (HP:0025700): A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. Evidence: PCS. Frequency: 4/4. (PMID:24439109)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:191830)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. (OMIM:191830)
- Primary amenorrhea (HP:0000786). Evidence: IEA. (OMIM:191830)
- Vaginal atresia (HP:0000148): Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. Evidence: IEA. (OMIM:191830)
These phenotypes are associated with the disease renal hypodysplasia/aplasia 1 (OMIM:191830).