- 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:30528827)
- Erosion of oral mucosa (HP:0031446): Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:30528827)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:30528827)
These phenotypes are associated with the disease blistering, acantholytic, of oral and laryngeal mucosa (OMIM:619226).