- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:215550)
- Abnormality of the skeletal system (HP:0000924, a Human Phenotype Ontology term): An abnormality of the skeletal system. Evidence: IEA. (OMIM:215550)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: IEA. (OMIM:215550)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:215550)
- Intracranial hemorrhage (HP:0002170, a Human Phenotype Ontology term): Hemorrhage occurring within the skull. Evidence: IEA. (OMIM:215550)
- Abnormality of the skin (HP:0000951, a Human Phenotype Ontology term): An abnormality of the skin. Evidence: IEA. (OMIM:215550)
These phenotypes are associated with the disease circumvallate placenta syndrome (OMIM:215550, an entry in Online Mendelian Inheritance in Man).