- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:613124)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:613124)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: IEA. (OMIM:613124)
- Thoracic hypoplasia (HP:0005257). Evidence: IEA. (OMIM:613124)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: IEA. (OMIM:613124)
- 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: IEA. (OMIM:613124)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: IEA. (OMIM:613124)
- Adrenal hypoplasia (HP:0000835): Developmental hypoplasia of the adrenal glands. Evidence: IEA. (OMIM:613124)
- Upper limb undergrowth (HP:0009824): Arm shortening because of underdevelopment of one or more bones of the upper extremity. Evidence: IEA. (OMIM:613124)
These phenotypes are associated with the disease hydrops fetalis, nonimmune, with gracile bones and dysmorphic features (OMIM:613124).