- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:33450762)
- Abnormality of body height (HP:0000002): Deviation from the norm of height with respect to that which is expected according to age and gender norms. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Short digit (HP:0011927): One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Abnormal external nose morphology (HP:0010938): An abnormality of the external nose. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: PCS. Frequency: 3/3. (PMID:33450762)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Keloids (HP:0010562). Evidence: PCS. Frequency: 3/3. (PMID:33450762)
- Corneal pterygium (HP:0034363): Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea. Evidence: PCS. Frequency: 3/3. (PMID:33450762)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/3. (PMID:33450762)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Abnormal maxilla morphology (HP:0000326): An abnormality of the Maxilla (upper jaw bone). Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Abnormal nasal bridge morphology (HP:0000422): Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: PCS. Frequency: 0/3. (PMID:33450762)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:33450762)
These phenotypes are associated with the disease ocular pterygium-digital keloid dysplasia syndrome (OMIM:621091).