Phenotypes associated with the disease renal hypodysplasia/aplasia 2 (OMIM:615721):
- Bilateral renal agenesis (HP:0010958): A bilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 4/4. (PMID:22698282)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 1/1. (PMID:22698282)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 4/4. (PMID:22698282)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: PCS. Frequency: 1/1. (PMID:22698282)
- 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:22698282)
- 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: 1/1. (PMID:22698282)
- 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:22698282)