- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 15/15. (PMID:12915478)
- 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:12915478)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: PCS. Frequency: 14/15. (PMID:12915478)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: 1/15. (PMID:12915478)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: PCS. Frequency: 0/8. (PMID:12915478)
- Congenital nonbullous ichthyosiform erythroderma (HP:0007479): The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. Evidence: PCS. Frequency: 15/15. (PMID:12915478)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 0/8. (PMID:12915478)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 14/15. (PMID:12915478)
- Leukonychia (HP:0001820): White discoloration of the nails. Evidence: PCS. Frequency: 1/15. (PMID:12915478)
These phenotypes are associated with the disease autosomal recessive congenital ichthyosis 4A (OMIM:601277).