- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:7526933)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: PCS. Frequency: 0/2. (PMID:7526933)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 3/3. (PMID:7526933;PMID:7525408)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: PCS. Frequency: 0/2. (PMID:7526933)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:7526933)
- 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:7526933)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: PCS. Frequency: 0/2. (PMID:7526933)
- Stratum basale cleavage (HP:0034193): Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. Evidence: PCS. Frequency: 3/3. (PMID:7526933;PMID:7525408)
- Abnormal dermoepidermal hemidesmosome morphology (HP:0032449): An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. Evidence: PCS. Frequency: 0/2. (PMID:7526933)
These phenotypes are associated with the disease epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (OMIM:601001).