- Oligohydramnios (HP:0001562, a Human Phenotype Ontology term): Diminished amniotic fluid volume in pregnancy. Evidence: IEA. (OMIM:271520)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:271520)
- Pulmonary hypoplasia (HP:0002089, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:271520)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:271520)
- Urethral atresia (HP:0000068, a Human Phenotype Ontology term): Congenital anomaly characterized by closure or failure to develop an opening in the urethra. Evidence: TAS. (OMIM:271520)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:271520)
- Single umbilical artery (HP:0001195, a Human Phenotype Ontology term): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: IEA. (OMIM:271520)
- Absent external genitalia (HP:0000042, a Human Phenotype Ontology term): Lack of external genitalia in a male or female individual. Evidence: IEA. (OMIM:271520)
- Aplasia of the uterus (HP:0000151, a Human Phenotype Ontology term): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: IEA. (OMIM:271520)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: IEA. (OMIM:271520)
- Aplasia of the vagina (HP:0003250, a Human Phenotype Ontology term): Aplasia of the vagina. Evidence: IEA. (OMIM:271520)
- Abdominal distention (HP:0003270, a Human Phenotype Ontology term): Distention of the abdomen. Evidence: IEA. (OMIM:271520)
- Rib fusion (HP:0000902, a Human Phenotype Ontology term): Complete or partial merging of adjacent ribs. Evidence: IEA. (OMIM:271520)
- Hemivertebrae (HP:0002937, a Human Phenotype Ontology term): Absence of one half of the vertebral body. Evidence: IEA. (OMIM:271520)
- Vertebral fusion (HP:0002948, a Human Phenotype Ontology term): A developmental defect leading to the union of two adjacent vertebrae. Evidence: IEA. (OMIM:271520)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:271520)
- Missing ribs (HP:0000921, a Human Phenotype Ontology term): A developmental anomaly with absence of one or more ribs. Evidence: IEA. (OMIM:271520)
- Supernumerary vertebrae (HP:0002946, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:271520)
- 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:271520)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: IEA. (OMIM:271520)
- Block vertebrae (HP:0003305, a Human Phenotype Ontology term): Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). Evidence: IEA. (OMIM:271520)
- Thin ribs (HP:0000883, a Human Phenotype Ontology term): Ribs with a reduced diameter. Evidence: TAS. (OMIM:271520)
- Short ribs (HP:0000773, a Human Phenotype Ontology term): Reduced rib length. Evidence: TAS. (OMIM:271520)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:271520)
These phenotypes are associated with the disease spondylocostal dysostosis-anal and genitourinary malformations syndrome (OMIM:271520, an entry in Online Mendelian Inheritance in Man).