Phenotypes associated with the disease alacrima, congenital, autosomal recessive (OMIM:601549, an entry in Online Mendelian Inheritance in Man):
- Punctate corneal epithelial erosions (HP:0000584, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:601549)
- Photophobia (HP:0000613, a Human Phenotype Ontology term): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: IEA. (OMIM:601549)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:601549)
- Alacrima (HP:0000522, a Human Phenotype Ontology term): Absence of tear secretion. Evidence: IEA. (OMIM:601549)