Phenotypes associated with the disease lethal Larsen-like syndrome (OMIM:245650):
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:245650)
- Multiple joint dislocation (HP:0012095): Dislocation of many joints. Evidence: TAS. (OMIM:245650)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: IEA. (OMIM:245650)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:245650)
- Abnormal cartilage matrix (HP:0008178). Evidence: IEA. (OMIM:245650)
- 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:245650)
- Pulmonic regurgitation (HP:0010444): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: IEA. (OMIM:245650)
- Tracheomalacia (HP:0002779). Evidence: IEA. (OMIM:245650)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:245650)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:245650)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: IEA. (OMIM:245650)