- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: IEA. (OMIM:253310)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:253310)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:253310)
- Abnormality of the amniotic fluid (HP:0001560): Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. Evidence: IEA. (OMIM:253310)
- Widening of cervical spinal canal (HP:0004571). Evidence: IEA. (OMIM:253310)
- Paucity of anterior horn motor neurons (HP:0007277). Evidence: IEA. (OMIM:253310)
- 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:253310)
- Hypoplasia of the musculature (HP:0009004): Underdevelopment of the musculature. Evidence: IEA. (OMIM:253310)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. (OMIM:253310)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:253310)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:253310)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: IEA. (OMIM:253310)
These phenotypes are associated with the disease lethal congenital contracture syndrome 1 (OMIM:253310).