- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/3. (PMID:24253444)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/3. (PMID:24253444)
- Late first trimester onset (HP:0034199): This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). Evidence: PCS. Frequency: 1/3. (PMID:24253444)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 1/3. (PMID:24253444)
- 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:24253444)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:24253444)
- Absence of the sacrum (HP:0010305): Absence (aplasia) of the sacrum. Evidence: PCS. Frequency: 3/3. (PMID:24253444)
- Persistent cloaca (HP:0012621): Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. Evidence: PCS. Frequency: 1/3. (PMID:24253444)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: PCS. Frequency: 3/3. (PMID:24253444)
- Vertebral clefting (HP:0008428): Schisis (cleft or cleavage) of vertebral bodies. Evidence: PCS. Frequency: 1/3. (PMID:24253444)
These phenotypes are associated with the disease sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome (OMIM:615709).