- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: PCS. Frequency: 3/3. (PMID:20302578;PMID:16175511)
- Alopecia totalis (HP:0007418): Loss of all scalp hair. Evidence: PCS. Frequency: 1/1. (PMID:20613772)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/1. (PMID:16175511)
- Aplasia cutis congenita (HP:0001057): A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Evidence: PCS. Frequency: 1/1. (PMID:16175511)
- Mitten deformity (HP:0004057): Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. Evidence: PCS. Frequency: 1/1. (PMID:16175511)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: PCS. Frequency: 4/4. (PMID:20302578;PMID:20613772;PMID:16175511)
- Widely spaced toes (HP:0008094): An overall widening of the spaces between the digits. Evidence: PCS. Frequency: 1/1. (PMID:16175511)
- 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: 1/1. (PMID:20613772)
- Absent fingernail (HP:0001817): Absence of a fingernail. Evidence: PCS. Frequency: 1/1. (PMID:20613772)
- Tapered distal phalanges of finger (HP:0009884): A reduction in diameter of the distal phalanx of finger towards the distal end. Evidence: PCS. Frequency: 1/1. (PMID:16175511)
- 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:16175511)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/2. (PMID:20302578)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: PCS. Frequency: 1/2. (PMID:20302578)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: PCS. Frequency: 1/1. (PMID:16175511)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 4/4. (PMID:20302578;PMID:20613772;PMID:16175511)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: PCS. Frequency: 3/3. (PMID:20302578;PMID:16175511)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: PCS. Frequency: 1/1. (PMID:16175511)
These phenotypes are associated with the disease lethal acantholytic epidermolysis bullosa (OMIM:609638).