- Melanoma (HP:0002861): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: PCS. Frequency: 1/11. (PMID:35931051)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/9. (PMID:35931051)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 9/9. (PMID:35931051)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/10. (PMID:35931051)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/9. (PMID:35931051)
- Digenic inheritance (HP:0010984): A type of multifactorial inheritance governed by the simultaneous action of two gene loci. Evidence: PCS. (PMID:35931051)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 3/10. (PMID:35931051)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 9/9. (PMID:35931051)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 1/11. (PMID:35931051)
- Bilateral ptosis (HP:0001488). Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 2/9. (PMID:35931051)
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/9. (PMID:35931051)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: PCS. Frequency: 10/10. (PMID:35931051)
- Squamous cell carcinoma of the skin (HP:0006739): Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Short telomere length (HP:0031413): An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. Evidence: PCS. Frequency: 2/3. (PMID:35931051)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 10/10. (PMID:35931051)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: PCS. Frequency: 4/10. (PMID:35931051)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 4/9. (PMID:35931051)
- Abnormal palmar dermatoglyphics (HP:0001018): An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. Evidence: PCS. Frequency: 1/10. (PMID:35931051)
These phenotypes are associated with the disease dyskeratosis congenita, digenic (OMIM:620040).