Phenotypes associated with the disease Holzgreve-Wagner-Rehder syndrome (OMIM:236110):
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:236110)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: IEA. (OMIM:236110)
- Hand polydactyly (HP:0001161): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: IEA. (OMIM:236110)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: IEA. (OMIM:236110)
- 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:236110)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. (OMIM:236110)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: IEA. (OMIM:236110)