- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. Frequency: 1/1. (PMID:25691407)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- 2-5 finger cutaneous syndactyly (HP:0005650): A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Axillary pterygium (HP:0001060): Presence of a cutaneous membrane (flap) in the armpit. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Bilateral cleft lip (HP:0100336): A non-midline cleft of the upper lip on the left and right sides. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Bilateral cleft palate (HP:0100337): Nonmidline cleft palate on the left and right sides. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Antecubital pterygium (HP:0009760): Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Aplasia of distal finger phalanx (HP:0009881). Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- 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:25691407)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Ankyloblepharon (HP:0009755): Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Popliteal pterygium (HP:0009756): A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/1. (PMID:25691407)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: PCS. Frequency: 1/1. (PMID:25691407)
These phenotypes are associated with the disease Bartsocas-Papas syndrome 2 (OMIM:619339).