Phenotypes associated with the disease Parana hard-skin syndrome (OMIM:260530):
- Abnormal abdomen morphology (HP:0001438): A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. Evidence: IEA. (OMIM:260530)
- 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:260530)
- Restricted chest movement (HP:0006596). Evidence: IEA. (OMIM:260530)
- Severe postnatal growth retardation (HP:0008850): Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. Evidence: IEA. (OMIM:260530)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:260530)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: IEA. (OMIM:260530)